Libraries

library("biomaRt")

We will look for SNP information in CHRN (cholinergic receptor nicotinic) genes

We will use the genomic assembly GRCh38.p12 (GCF_000001405.38). Below is the gene name, ENTREZ ID, chromosome number and coordinates of human CHRN genes obtained from NCBI.

CHRNA1/1134: chr2 174747592..174764472 CHRNA2/1135: chr8 27459761..27479296 CHRNA3/1136: chr15 78593052..78621295 CHRNA4/1137: chr20 63343310..63375471 CHRNA5/1138: chr15 78565520..78595269 CHRNA6/8973: chr8 42752620..42768786 CHRNA7/1139: chr15 32030462..32172521 CHRNA9/55584: chr4 40335329..40355217 CHRNA10/57053: chr11 3665587..3673629 CHRNB1/1140: chr17 7445087..7457613 CHRNB2/1141: chr1 154567781..154584708 CHRNB3/1142: chr8 42697376..42737407 CHRNB4/1143: chr15 78623282..78655586 CHRNG/1144: chr2 232539727..232546328 CHRND/1145: chr17 232526160..232537907 CHRNE/1146: chr2 4897769..4905019

hssnpmart = useMart(biomart = "ENSEMBL_MART_SNP", dataset="hsapiens_snp") # see listMarts() function
hssnpmart
## Object of class 'Mart':
##   Using the ENSEMBL_MART_SNP BioMart database
##   Using the hsapiens_snp dataset

CHRNA1 SNPs

chrna1_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                        filters = c('chr_name','start','end'),
                        values = list(2, 174747592, 174764472), # CHRNA1 seq coordinates
                        mart = hssnpmart)

head(chrna1_snps_ncbi) 
##      refsnp_id allele chrom_start chrom_strand
## 1 rs1049898959    G/T   174747597            1
## 2  rs966040107    A/C   174747598            1
## 3 rs1452833174    A/G   174747602            1
## 4 rs1345498189    T/C   174747604            1
## 5  rs574135903    T/A   174747625            1
## 6 rs1446457557    C/T   174747644            1
nrow(chrna1_snps_ncbi)
## [1] 3879

CHRNA2 SNPs

chrna2_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                        filters = c('chr_name','start','end'),
                        values = list(8, 27459761, 27479296), # CHRNA2 seq coordinates
                        mart = hssnpmart)
head(chrna2_snps_ncbi)
##      refsnp_id allele chrom_start chrom_strand
## 1 rs1481118481    G/A    27459767            1
## 2  rs548065444    A/G    27459775            1
## 3 rs1197776867    T/G    27459778            1
## 4 rs1470538508    T/-    27459778            1
## 5  rs531828656    T/C    27459780            1
## 6  rs377169301    T/A    27459784            1
nrow(chrna2_snps_ncbi)
## [1] 4814

CHRNA3 SNPs

chrna3_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                        filters = c('chr_name','start','end'),
                        values = list(15, 78593052, 78621295), # CHRNA3 seq coordinates
                        mart = hssnpmart)
head(chrna3_snps_ncbi)
##      refsnp_id allele chrom_start chrom_strand
## 1 rs1231364841    C/T    78593056            1
## 2  rs764603712    A/G    78593058            1
## 3  rs936162811  A/C/G    78593066            1
## 4 rs1053394384  T/C/G    78593067            1
## 5 rs1229349593    G/T    78593068            1
## 6 rs1297830384    C/T    78593069            1
nrow(chrna3_snps_ncbi)
## [1] 7486

CHRNA4 SNPs: NCBI CHRNA4 gene coordinates 63343310..63375471

chrna4_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                        filters = c('chr_name','start','end'),
                        values = list(20, 63343310, 63375471), # CHRNA4 seq coordinates
                        mart = hssnpmart)
head(chrna4_snps_ncbi)
##      refsnp_id                 allele chrom_start chrom_strand
## 1 rs1047761205                    C/A    63343311            1
## 2 rs1465433121 -/GGCCGCACCTGGGCTCGGCG    63343312            1
## 3   rs45541941                    G/A    63343312            1
## 4  rs199851285                  C/G/T    63343315            1
## 5  rs918537239                  G/A/C    63343316            1
## 6  rs929862981                    A/C    63343318            1
nrow(chrna4_snps_ncbi)
## [1] 10229
chrna4_snps_ncbi[4000,]
##         refsnp_id allele chrom_start chrom_strand
## 4000 rs1426688300    G/-    63354194            1

CHRNA5 SNPs

chrna5_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                        filters = c('chr_name','start','end'),
                        values = list(15, 78565520, 78595269), # CHRNA5 seq coordinates
                        mart = hssnpmart)
head(chrna5_snps_ncbi)
##      refsnp_id                      allele chrom_start chrom_strand
## 1 rs1421007694 CACATGCGTCCCGAGCCCGCCAGAA/-    78565519            1
## 2 rs1031751646                         A/C    78565520            1
## 3  rs199898580                     A/C/G/T    78565522            1
## 4  rs201230605                     T/A/C/G    78565523            1
## 5 rs1458245024                         -/G    78565524            1
## 6 rs1404853491                         C/-    78565525            1
nrow(chrna5_snps_ncbi)
## [1] 6825

CHRNA6 SNPs

chrna6_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                        filters = c('chr_name','start','end'),
                        values = list(8, 42752620, 42768786), # CHRNA6 seq coordinates
                        mart = hssnpmart)
head(chrna6_snps_ncbi)
##      refsnp_id       allele chrom_start chrom_strand
## 1  rs200918981          T/G    42752620            1
## 2  rs879236648          T/-    42752620            1
## 3 rs1286043771         TT/-    42752620            1
## 4 rs1205361758     TTTTTT/-    42752620            1
## 5 rs1437679733    TTTTTTT/-    42752620            1
## 6 rs1272705442 TTTTTTTTTT/-    42752620            1
nrow(chrna6_snps_ncbi)
## [1] 3906

CHRNA7 SNPs

chrna7_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                        filters = c('chr_name','start','end'),
                        values = list(15, 32030462, 32172521), # CHRNA7 seq coordinates
                        mart = hssnpmart)
head(chrna7_snps_ncbi)
##      refsnp_id  allele chrom_start chrom_strand
## 1 rs1395355294     G/C    32030463            1
## 2 rs1053312620   C/G/T    32030465            1
## 3 rs1397564673     C/G    32030473            1
## 4 rs1293748195     C/T    32030479            1
## 5 rs1354724692 G/A/C/T    32030480            1
## 6 rs1436240101     A/C    32030488            1
nrow(chrna7_snps_ncbi)
## [1] 31342

CHRNA9 SNPs

chrna9_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                        filters = c('chr_name','start','end'),
                        values = list(4, 40335329, 40355217), # CHRNA9 seq coordinates
                        mart = hssnpmart)
head(chrna9_snps_ncbi)
##      refsnp_id allele chrom_start chrom_strand
## 1  rs542603027    A/T    40335329            1
## 2  rs971463142    G/A    40335331            1
## 3 rs1487486046    C/G    40335332            1
## 4 rs1262986819    T/C    40335335            1
## 5  rs562285535    C/T    40335347            1
## 6 rs1449287441    T/C    40335348            1
nrow(chrna9_snps_ncbi)
## [1] 4834

CHRNA10 SNPs

chrna10_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                         filters = c('chr_name','start','end'),
                         values = list(11, 3665587, 3673629 ), # CHRNA10 coding seq coordinates
                         mart = hssnpmart)
head(chrna10_snps_ncbi)
##      refsnp_id allele chrom_start chrom_strand
## 1 rs1161340529    T/C     3665594            1
## 2 rs1406749346    C/T     3665596            1
## 3 rs1226800647    A/T     3665597            1
## 4 rs1270903945    C/T     3665598            1
## 5 rs1052619614    G/A     3665599            1
## 6 rs1250310691 CTTA/-     3665600            1
nrow(chrna10_snps_ncbi)
## [1] 2227

CHRNB1 SNPs

chrnb1_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                        filters = c('chr_name','start','end'),
                        values = list(17, 7445087, 7457613), # CHRNB1 seq coordinates
                        mart = hssnpmart)
head(chrnb1_snps_ncbi)
##      refsnp_id allele chrom_start chrom_strand
## 1 rs1363140679    C/A     7445089            1
## 2 rs1471339400    G/A     7445090            1
## 3  rs773897169    C/T     7445092            1
## 4  rs759352782    C/G     7445096            1
## 5  rs767254632    T/G     7445097            1
## 6 rs1469018234    G/-     7445100            1
nrow(chrnb1_snps_ncbi)
## [1] 3371

CHRNB2 SNPs

chrnb2_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                        filters = c('chr_name','start','end'),
                        values = list(1, 154567781, 154584708), # CHRNB2 seq coordinates
                        mart = hssnpmart)
head(chrnb2_snps_ncbi)
##      refsnp_id allele chrom_start chrom_strand
## 1 rs1277029869    C/T   154567784            1
## 2 rs1278820939    C/T   154567786            1
## 3 rs1431319843    C/G   154567788            1
## 4  rs555605813  C/A/G   154567790            1
## 5 rs1331904183    C/T   154567792            1
## 6  rs934191502    A/C   154567793            1
nrow(chrnb2_snps_ncbi)
## [1] 4231

CHRNB3 SNPs

chrnb3_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                        filters = c('chr_name','start','end'),
                        values = list(8, 42697376, 42737407), # CHRNB3 seq coordinates
                        mart = hssnpmart)
head(chrnb3_snps_ncbi)
##      refsnp_id allele chrom_start chrom_strand
## 1  rs949137347    A/G    42697378            1
## 2 rs1042148264    C/A    42697381            1
## 3  rs192526511    G/A    42697382            1
## 4  rs936317953    C/T    42697384            1
## 5  rs546877649    G/A    42697385            1
## 6   rs41272375    G/C    42697387            1
nrow(chrnb3_snps_ncbi)
## [1] 9167

CHRNB4 SNPs

chrnb4_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                        filters = c('chr_name','start','end'),
                        values = list(15, 78623282, 78655586), # CHRNB4 seq coordinates
                        mart = hssnpmart)
head(chrnb4_snps_ncbi)
##      refsnp_id allele chrom_start chrom_strand
## 1 rs1238040072    A/C    78623282            1
## 2 rs1163579592    G/C    78623289            1
## 3  rs562951822    C/A    78623305            1
## 4  rs530387488    C/T    78623315            1
## 5  rs556173595    G/A    78623316            1
## 6  rs541966206    G/-    78623316            1
nrow(chrnb4_snps_ncbi)
## [1] 7799

CHRNG SNPs

chrng_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                       filters = c('chr_name','start','end'),
                       values = list(2, 232539727, 232546328), # CHRNG seq coordinates
                       mart = hssnpmart)
head(chrng_snps_ncbi)
##      refsnp_id allele chrom_start chrom_strand
## 1 rs1321657427    C/A   232539731            1
## 2  rs369418719    G/C   232539735            1
## 3 rs1345635809    G/A   232539737            1
## 4 rs1194959452    C/T   232539738            1
## 5  rs186758675    T/A   232539739            1
## 6 rs1231421076    C/T   232539746            1
nrow(chrng_snps_ncbi)
## [1] 2150

CHRND SNPs

chrnd_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                       filters = c('chr_name','start','end'),
                       values = list(2, 232526160, 232537907), # CHRNdD seq coordinates
                       mart = hssnpmart)
head(chrnd_snps_ncbi)
##      refsnp_id allele chrom_start chrom_strand
## 1 rs1282550557    A/C   232526165            1
## 2 rs1240062383    C/T   232526166            1
## 3  rs367844338    G/A   232526168            1
## 4  rs778460094    C/T   232526169            1
## 5  rs747494704    G/A   232526173            1
## 6  rs771477279    C/T   232526178            1
nrow(chrnd_snps_ncbi)
## [1] 3151

CHRNBE SNPs

chrne_snps_ncbi= getBM(attributes = c('refsnp_id','allele','chrom_start','chrom_strand'),
                       filters = c('chr_name','start','end'),
                       values = list(17, 4897769, 4905019), # CHRNE seq coordinates
                       mart = hssnpmart)
head(chrne_snps_ncbi)
##      refsnp_id      allele chrom_start chrom_strand
## 1 rs1237659462 TTTCTTCAT/-     4897763            1
## 2 rs1399638221       C/G/T     4897784            1
## 3 rs1413534922         T/C     4897787            1
## 4 rs1407275489         -/T     4897793            1
## 5 rs1299231687         C/A     4897795            1
## 6  rs879032301         C/A     4897796            1
nrow(chrne_snps_ncbi)
## [1] 2961

Make a dataframe of the SNP reference IDs

CHRNsnps <- as.data.frame(cbind(chrna1_snps_ncbi$refsnp_id, chrna2_snps_ncbi$refsnp_id,
                                chrna3_snps_ncbi$refsnp_id, chrna4_snps_ncbi$refsnp_id,
                                chrna5_snps_ncbi$refsnp_id, chrna6_snps_ncbi$refsnp_id,
                                chrna7_snps_ncbi$refsnp_id, chrna9_snps_ncbi$refsnp_id,
                                chrna10_snps_ncbi$refsnp_id, chrnb1_snps_ncbi$refsnp_id,
                                chrnb2_snps_ncbi$refsnp_id, chrnb3_snps_ncbi$refsnp_id,
                                chrnb4_snps_ncbi$refsnp_id, chrng_snps_ncbi$refsnp_id,
                                chrnd_snps_ncbi$refsnp_id, chrne_snps_ncbi$refsnp_id))
## Warning in cbind(chrna1_snps_ncbi$refsnp_id, chrna2_snps_ncbi$refsnp_id, :
## number of rows of result is not a multiple of vector length (arg 1)
head(CHRNsnps)
##             V1           V2           V3           V4           V5
## 1 rs1049898959 rs1481118481 rs1231364841 rs1047761205 rs1421007694
## 2  rs966040107  rs548065444  rs764603712 rs1465433121 rs1031751646
## 3 rs1452833174 rs1197776867  rs936162811   rs45541941  rs199898580
## 4 rs1345498189 rs1470538508 rs1053394384  rs199851285  rs201230605
## 5  rs574135903  rs531828656 rs1229349593  rs918537239 rs1458245024
## 6 rs1446457557  rs377169301 rs1297830384  rs929862981 rs1404853491
##             V6           V7           V8           V9          V10
## 1  rs200918981 rs1395355294  rs542603027 rs1161340529 rs1363140679
## 2  rs879236648 rs1053312620  rs971463142 rs1406749346 rs1471339400
## 3 rs1286043771 rs1397564673 rs1487486046 rs1226800647  rs773897169
## 4 rs1205361758 rs1293748195 rs1262986819 rs1270903945  rs759352782
## 5 rs1437679733 rs1354724692  rs562285535 rs1052619614  rs767254632
## 6 rs1272705442 rs1436240101 rs1449287441 rs1250310691 rs1469018234
##            V11          V12          V13          V14          V15
## 1 rs1277029869  rs949137347 rs1238040072 rs1321657427 rs1282550557
## 2 rs1278820939 rs1042148264 rs1163579592  rs369418719 rs1240062383
## 3 rs1431319843  rs192526511  rs562951822 rs1345635809  rs367844338
## 4  rs555605813  rs936317953  rs530387488 rs1194959452  rs778460094
## 5 rs1331904183  rs546877649  rs556173595  rs186758675  rs747494704
## 6  rs934191502   rs41272375  rs541966206 rs1231421076  rs771477279
##            V16
## 1 rs1237659462
## 2 rs1399638221
## 3 rs1413534922
## 4 rs1407275489
## 5 rs1299231687
## 6  rs879032301
dim(CHRNsnps)
## [1] 31342    16
summary(CHRNsnps)
##             V1                   V2                   V3       
##  CM030013    :    9   CM062512    :    7   CR096320    :    5  
##  CM062511    :    9   CM144682    :    7   rs1000254362:    5  
##  CM103994    :    9   rs1000347952:    7   rs1000725595:    5  
##  rs1006100295:    9   rs1000413072:    7   rs1000841933:    5  
##  rs1006483556:    9   rs1000477519:    7   rs1000874450:    5  
##  rs1006548565:    9   rs1000645912:    7   rs1002373947:    5  
##  (Other)     :31288   (Other)     :31300   (Other)     :31312  
##             V4                   V5                   V6       
##  rs1003575215:    4   CD144654    :    5   rs1003560319:    9  
##  rs1003901384:    4   rs1000249068:    5   rs1004986789:    9  
##  rs1005066999:    4   rs1000509773:    5   rs1005017818:    9  
##  rs1005199620:    4   rs1000860563:    5   rs1014947158:    9  
##  rs1007832495:    4   rs1001005920:    5   rs1024089097:    9  
##  rs1009196963:    4   rs1001197368:    5   rs1025872777:    9  
##  (Other)     :31318   (Other)     :31312   (Other)     :31288  
##             V7                   V8                   V9       
##  CM066004    :    1   rs1000054751:    7   rs1002504968:   15  
##  CR024781    :    1   rs1000770079:    7   rs1008837430:   15  
##  rs1000024280:    1   rs10008177  :    7   rs1012615008:   15  
##  rs1000028368:    1   rs10008196  :    7   rs1014845087:   15  
##  rs1000036085:    1   rs1001299628:    7   rs1014858098:   15  
##  rs1000110150:    1   rs10015231  :    7   rs1024414778:   15  
##  (Other)     :31336   (Other)     :31300   (Other)     :31252  
##            V10              V11                  V12       
##  rs1000896955:   10   CM002752:    8   rs1000002402:    4  
##  rs1001271364:   10   CM010187:    8   rs1000426782:    4  
##  rs1001872905:   10   CM055129:    8   rs1000833576:    4  
##  rs1005338765:   10   CM082552:    8   rs1001159160:    4  
##  rs1005369927:   10   CM082553:    8   rs1001202370:    4  
##  rs1007366348:   10   CM113088:    8   rs1001439811:    4  
##  (Other)     :31282   (Other) :31294   (Other)     :31318  
##            V13               V14              V15              V16       
##  rs1002356327:    5   CD063477 :   15   CD012239:   10   CD002497:   11  
##  rs1007107072:    5   CD063478 :   15   CD139268:   10   CD002498:   11  
##  rs1016906591:    5   CD1110243:   15   CM012084:   10   CD022895:   11  
##  rs1019350570:    5   CD1110244:   15   CM020014:   10   CD030129:   11  
##  rs1039147527:    5   CI063659 :   15   CM030015:   10   CD030130:   11  
##  rs1043423152:    5   CI063660 :   15   CM066005:   10   CD030131:   11  
##  (Other)     :31312   (Other)  :31252   (Other) :31282   (Other) :31276