rs17114247

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0122 (3666/29952,GnomAD)
T=0149 (4365/29118,TOPMED)
T=0153 (765/5008,1000G)
T=0054 (210/3854,ALSPAC)
T=0047 (176/3708,TWINSUK)
chr21:42058026 (GRCh38.p7) (21q22.3)
ND
GWASdb2
1   publication(s)
See rs on genome
166 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.42058026C>T
GRCh37.p13 chr 21NC_000021.8:g.43478135C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.738T=0.262
1000GenomesAmericanSub694C=0.940T=0.060
1000GenomesEast AsianSub1008C=0.803T=0.197
1000GenomesEuropeSub1006C=0.936T=0.064
1000GenomesGlobalStudy-wide5008C=0.847T=0.153
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.946T=0.054
The Genome Aggregation DatabaseAfricanSub8706C=0.758T=0.242
The Genome Aggregation DatabaseAmericanSub838C=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1614C=0.789T=0.211
The Genome Aggregation DatabaseEuropeSub18492C=0.938T=0.061
The Genome Aggregation DatabaseGlobalStudy-wide29952C=0.877T=0.122
The Genome Aggregation DatabaseOtherSub302C=0.870T=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.850T=0.149
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.953T=0.047
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs171142470.00000131Comorbid alcohol and nicotine dependence20158304
rs171142470.0000113Alcohol dependence20158304

eQTL of rs17114247 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs17114247 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr214347066643470894E067-7241
chr214350040143501731E06722266
chr214350197043502060E06723835
chr214350211843502347E06723983
chr214350239343502499E06724258
chr214351397943514053E06735844
chr214351415943514598E06736024
chr214351719943517302E06739064
chr214351739443518565E06739259
chr214352685743527010E06748722
chr214342873043428933E068-49202
chr214344153943441691E068-36444
chr214344185243442807E068-35328
chr214345816143458384E068-19751
chr214346878443468871E068-9264
chr214346910743469192E068-8943
chr214346963443469701E068-8434
chr214346974043469820E068-8315
chr214350197043502060E06823835
chr214350211843502347E06823983
chr214350239343502499E06824258
chr214350898743509942E06830852
chr214344185243442807E069-35328
chr214344763643448471E069-29664
chr214347066643470894E069-7241
chr214347130243471389E069-6746
chr214347145843471508E069-6627
chr214349022643490303E06912091
chr214349031243490386E06912177
chr214349041243490462E06912277
chr214350040143501731E06922266
chr214350197043502060E06923835
chr214350211843502347E06923983
chr214351739443518565E06939259
chr214342873043428933E070-49202
chr214344153943441691E070-36444
chr214344185243442807E070-35328
chr214347646443478195E0700
chr214350040143501731E07022266
chr214351209243512580E07033957
chr214351278943512878E07034654
chr214344153943441691E071-36444
chr214344185243442807E071-35328
chr214345197043452067E071-26068
chr214345207843452185E071-25950
chr214347037943470444E071-7691
chr214347066643470894E071-7241
chr214347130243471389E071-6746
chr214347145843471508E071-6627
chr214349022643490303E07112091
chr214349031243490386E07112177
chr214349041243490462E07112277
chr214350010243500382E07121967
chr214350040143501731E07122266
chr214350197043502060E07123835
chr214350211843502347E07123983
chr214351739443518565E07139259
chr214342816543428223E072-49912
chr214342853943428633E072-49502
chr214342873043428933E072-49202
chr214344153943441691E072-36444
chr214344756243447616E072-30519
chr214344763643448471E072-29664
chr214344865143449010E072-29125
chr214346804743468665E072-9470
chr214346878443468871E072-9264
chr214348957243489689E07211437
chr214348986943489946E07211734
chr214349006943490196E07211934
chr214349022643490303E07212091
chr214349031243490386E07212177
chr214349041243490462E07212277
chr214349984443499938E07221709
chr214350010243500382E07221967
chr214350040143501731E07222266
chr214350197043502060E07223835
chr214350211843502347E07223983
chr214350239343502499E07224258
chr214351415943514598E07236024
chr214351739443518565E07239259
chr214344153943441691E073-36444
chr214344185243442807E073-35328
chr214344865143449010E073-29125
chr214346878443468871E073-9264
chr214349984443499938E07321709
chr214350010243500382E07321967
chr214350040143501731E07322266
chr214350197043502060E07323835
chr214350211843502347E07323983
chr214344153943441691E074-36444
chr214350197043502060E07423835
chr214350211843502347E07423983
chr214350239343502499E07424258
chr214350281843502914E07424683
chr214350293243502982E07424797
chr214342873043428933E081-49202
chr214343183043432012E081-46123
chr214343203643432144E081-45991
chr214343219843432268E081-45867
chr214343231143433107E081-45028
chr214343315243433250E081-44885
chr214344153943441691E081-36444
chr214344185243442807E081-35328
chr214344633343446497E081-31638
chr214344654143446659E081-31476
chr214344692843447073E081-31062
chr214344713343447439E081-30696
chr214344744943447503E081-30632
chr214344756243447616E081-30519
chr214344763643448471E081-29664
chr214344865143449010E081-29125
chr214344905443449918E081-28217
chr214347630543476459E081-1676
chr214347646443478195E0810
chr214347820043478447E08165
chr214348862943488779E08110494
chr214348878143488865E08110646
chr214350040143501731E08122266
chr214351336843513440E08135233
chr214351345043513531E08135315
chr214351376143513866E08135626
chr214351397943514053E08135844
chr214351415943514598E08136024
chr214351576443515835E08137629
chr214351613043516186E08137995
chr214351633343516394E08138198
chr214351642743517157E08138292
chr214351719943517302E08139064
chr214351739443518565E08139259
chr214351905243519106E08140917
chr214351944843519498E08141313
chr214351966743519746E08141532
chr214352014143520205E08142006
chr214352030443520356E08142169
chr214352200843523535E08143873
chr214352384043524058E08145705
chr214352432243524400E08146187
chr214343183043432012E082-46123
chr214343203643432144E082-45991
chr214343219843432268E082-45867
chr214343231143433107E082-45028
chr214343315243433250E082-44885
chr214344124543441295E082-36840
chr214344133643441386E082-36749
chr214344153943441691E082-36444
chr214344185243442807E082-35328
chr214344756243447616E082-30519
chr214344763643448471E082-29664
chr214344905443449918E082-28217
chr214350040143501731E08222266
chr214350609643506348E08227961
chr214351182743511871E08233692
chr214351193143512040E08233796
chr214351209243512580E08233957
chr214351278943512878E08234654
chr214351336843513440E08235233
chr214351345043513531E08235315
chr214351376143513866E08235626
chr214351397943514053E08235844
chr214351415943514598E08236024
chr214351576443515835E08237629
chr214351613043516186E08237995
chr214351633343516394E08238198
chr214351642743517157E08238292
chr214351944843519498E08241313
chr214352200843523535E08243873










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr214342893643431647E067-46488
chr214342893643431647E068-46488
chr214342893643431647E069-46488
chr214342893643431647E070-46488
chr214342893643431647E071-46488
chr214342893643431647E072-46488
chr214342893643431647E073-46488
chr214342893643431647E074-46488
chr214342893643431647E082-46488