rs847851

Homo sapiens
G>A
ANKS1A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0456 (13659/29938,GnomAD)
G==0454 (13245/29118,TOPMED)
G==0415 (2077/5008,1000G)
A=0261 (1004/3854,ALSPAC)
A=0279 (1036/3708,TWINSUK)
chr6:34936807 (GRCh38.p7) (6p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
119 Enhancers around
30 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.34936807G>A
GRCh37.p13 chr 6NC_000006.11:g.34904584G>A

Gene: ANKS1A, ankyrin repeat and sterile alpha motif domain containing 1A(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ANKS1A transcriptNM_015245.2:c.N/AIntron Variant
ANKS1A transcript variant X6XM_005248964.3:c.N/AIntron Variant
ANKS1A transcript variant X5XM_006715036.2:c.N/AIntron Variant
ANKS1A transcript variant X1XM_011514431.2:c.N/AIntron Variant
ANKS1A transcript variant X2XM_011514432.2:c.N/AIntron Variant
ANKS1A transcript variant X3XM_011514433.1:c.N/AIntron Variant
ANKS1A transcript variant X6XM_011514434.2:c.N/AIntron Variant
ANKS1A transcript variant X7XM_011514435.2:c.N/AIntron Variant
ANKS1A transcript variant X8XM_011514436.2:c.N/AGenic Upstream Transcript Variant
ANKS1A transcript variant X9XM_011514437.2:c.N/AGenic Upstream Transcript Variant
ANKS1A transcript variant X11XM_017010593.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.049A=0.951
1000GenomesAmericanSub694G=0.630A=0.370
1000GenomesEast AsianSub1008G=0.277A=0.723
1000GenomesEuropeSub1006G=0.715A=0.285
1000GenomesGlobalStudy-wide5008G=0.415A=0.585
1000GenomesSouth AsianSub978G=0.590A=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.739A=0.261
The Genome Aggregation DatabaseAfricanSub8722G=0.143A=0.857
The Genome Aggregation DatabaseAmericanSub838G=0.680A=0.320
The Genome Aggregation DatabaseEast AsianSub1616G=0.255A=0.745
The Genome Aggregation DatabaseEuropeSub18460G=0.751A=0.248
The Genome Aggregation DatabaseGlobalStudy-wide29938G=0.543A=0.456
The Genome Aggregation DatabaseOtherSub302G=0.580A=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.454A=0.545
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.721A=0.279
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs8478519.3E-06alcoholism (heaviness of drinking)21529783

eQTL of rs847851 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:34904584SNRPCENSG00000124562.5G>A2.8623e-13179401Cortex
Chr6:34904584UHRF1BP1ENSG00000065060.12G>A2.6810e-17144727Caudate_basal_ganglia

meQTL of rs847851 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 )
chr63485905934859393E067-45191
chr63485971834859798E067-44786
chr63485980334859887E067-44697
chr63485995334860013E067-44571
chr63487695534877774E067-26810
chr63489236534892486E067-12098
chr63492456334924621E06719979
chr63492500334925144E06720419
chr63492517734925609E06720593
chr63492568834925771E06721104
chr63492665034926821E06722066
chr63494982934949935E06745245
chr63494993634950140E06745352
chr63495014834950398E06745564
chr63487394534874308E068-30276
chr63487436534874462E068-30122
chr63487475834874808E068-29776
chr63489610634896283E068-8301
chr63490229534902777E068-1807
chr63490283134902895E068-1689
chr63490290734902966E068-1618
chr63492126734921759E06816683
chr63492456334924621E06819979
chr63492500334925144E06820419
chr63492517734925609E06820593
chr63492568834925771E06821104
chr63492665034926821E06822066
chr63492709334927243E06822509
chr63492878934928839E06824205
chr63492891334928957E06824329
chr63492899334929152E06824409
chr63492950034929552E06824916
chr63494982934949935E06845245
chr63494993634950140E06845352
chr63495014834950398E06845564
chr63485905934859393E069-45191
chr63487695534877774E069-26810
chr63492081134920980E06916227
chr63492098834921139E06916404
chr63492126734921759E06916683
chr63492197334922023E06917389
chr63492210934922169E06917525
chr63492456334924621E06919979
chr63492500334925144E06920419
chr63492517734925609E06920593
chr63492568834925771E06921104
chr63492665034926821E06922066
chr63492709334927243E06922509
chr63490229534902777E070-1807
chr63492240134922454E07017817
chr63492263634922780E07018052
chr63487475834874808E071-29776
chr63487695534877774E071-26810
chr63490229534902777E071-1807
chr63490613134906335E0711547
chr63491156334911741E0716979
chr63492081134920980E07116227
chr63492098834921139E07116404
chr63492126734921759E07116683
chr63492456334924621E07119979
chr63492500334925144E07120419
chr63492517734925609E07120593
chr63492568834925771E07121104
chr63492665034926821E07122066
chr63492709334927243E07122509
chr63492950034929552E07124916
chr63494982934949935E07145245
chr63494993634950140E07145352
chr63495014834950398E07145564
chr63489236534892486E072-12098
chr63492665034926821E07222066
chr63492950034929552E07224916
chr63494982934949935E07245245
chr63494993634950140E07245352
chr63495014834950398E07245564
chr63485905934859393E073-45191
chr63485971834859798E073-44786
chr63485980334859887E073-44697
chr63485995334860013E073-44571
chr63488502334885073E073-19511
chr63488541734885470E073-19114
chr63489578034895832E073-8752
chr63489610634896283E073-8301
chr63492456334924621E07319979
chr63492500334925144E07320419
chr63492517734925609E07320593
chr63492665034926821E07322066
chr63492709334927243E07322509
chr63485980334859887E074-44697
chr63485995334860013E074-44571
chr63486478534864873E074-39711
chr63486492834865364E074-39220
chr63486558734865702E074-38882
chr63487695534877774E074-26810
chr63487899634879036E074-25548
chr63489236534892486E074-12098
chr63489307434893304E074-11280
chr63492197334922023E07417389
chr63492210934922169E07417525
chr63492456334924621E07419979
chr63492500334925144E07420419
chr63492517734925609E07420593
chr63492568834925771E07421104
chr63492665034926821E07422066
chr63492709334927243E07422509
chr63492871734928763E07424133
chr63492878934928839E07424205
chr63492891334928957E07424329
chr63492899334929152E07424409
chr63494982934949935E07445245
chr63494993634950140E07445352
chr63495014834950398E07445564
chr63485905934859393E081-45191
chr63490229534902777E081-1807
chr63485905934859393E082-45191
chr63485971834859798E082-44786
chr63485980334859887E082-44697
chr63485995334860013E082-44571
chr63490229534902777E082-1807










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63485502234857507E067-47077
chr63485752934857703E067-46881
chr63485775234857911E067-46673
chr63485502234857507E068-47077
chr63485752934857703E068-46881
chr63485775234857911E068-46673
chr63485502234857507E069-47077
chr63485752934857703E069-46881
chr63485775234857911E069-46673
chr63485502234857507E070-47077
chr63485752934857703E070-46881
chr63485775234857911E070-46673
chr63485502234857507E071-47077
chr63485752934857703E071-46881
chr63485775234857911E071-46673
chr63485502234857507E072-47077
chr63485752934857703E072-46881
chr63485775234857911E072-46673
chr63485502234857507E073-47077
chr63485752934857703E073-46881
chr63485775234857911E073-46673
chr63485502234857507E074-47077
chr63485752934857703E074-46881
chr63485775234857911E074-46673
chr63485502234857507E081-47077
chr63485752934857703E081-46881
chr63485775234857911E081-46673
chr63485502234857507E082-47077
chr63485752934857703E082-46881
chr63485775234857911E082-46673