rs847848

Homo sapiens
T>C
ANKS1A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0310 (9290/29918,GnomAD)
C=0360 (10488/29118,TOPMED)
C=0429 (2149/5008,1000G)
C=0151 (581/3854,ALSPAC)
C=0156 (580/3708,TWINSUK)
chr6:34938391 (GRCh38.p7) (6p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
146 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.34938391T>C
GRCh37.p13 chr 6NC_000006.11:g.34906168T>C

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
1000GenomesAfricanSub1322T=0.317C=0.683
1000GenomesAmericanSub694T=0.730C=0.270
1000GenomesEast AsianSub1008T=0.410C=0.590
1000GenomesEuropeSub1006T=0.848C=0.152
1000GenomesGlobalStudy-wide5008T=0.571C=0.429
1000GenomesSouth AsianSub978T=0.680C=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.849C=0.151
The Genome Aggregation DatabaseAfricanSub8696T=0.406C=0.594
The Genome Aggregation DatabaseAmericanSub838T=0.760C=0.240
The Genome Aggregation DatabaseEast AsianSub1612T=0.377C=0.623
The Genome Aggregation DatabaseEuropeSub18470T=0.846C=0.153
The Genome Aggregation DatabaseGlobalStudy-wide29918T=0.689C=0.310
The Genome Aggregation DatabaseOtherSub302T=0.730C=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.639C=0.360
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.844C=0.156
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
rs8478481.8E-05alcoholism (heaviness of drinking)21529783

eQTL of rs847848 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 rs847848 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 )
chr63485905934859393E067-46775
chr63485971834859798E067-46370
chr63485980334859887E067-46281
chr63485995334860013E067-46155
chr63487695534877774E067-28394
chr63489236534892486E067-13682
chr63492456334924621E06718395
chr63492500334925144E06718835
chr63492517734925609E06719009
chr63492568834925771E06719520
chr63492665034926821E06720482
chr63494982934949935E06743661
chr63494993634950140E06743768
chr63495014834950398E06743980
chr63495448534955035E06748317
chr63495518934955239E06749021
chr63495528134955703E06749113
chr63487394534874308E068-31860
chr63487436534874462E068-31706
chr63487475834874808E068-31360
chr63489610634896283E068-9885
chr63490229534902777E068-3391
chr63490283134902895E068-3273
chr63490290734902966E068-3202
chr63492126734921759E06815099
chr63492456334924621E06818395
chr63492500334925144E06818835
chr63492517734925609E06819009
chr63492568834925771E06819520
chr63492665034926821E06820482
chr63492709334927243E06820925
chr63492878934928839E06822621
chr63492891334928957E06822745
chr63492899334929152E06822825
chr63492950034929552E06823332
chr63494982934949935E06843661
chr63494993634950140E06843768
chr63495014834950398E06843980
chr63495448534955035E06848317
chr63495518934955239E06849021
chr63495528134955703E06849113
chr63485905934859393E069-46775
chr63487695534877774E069-28394
chr63492081134920980E06914643
chr63492098834921139E06914820
chr63492126734921759E06915099
chr63492197334922023E06915805
chr63492210934922169E06915941
chr63492456334924621E06918395
chr63492500334925144E06918835
chr63492517734925609E06919009
chr63492568834925771E06919520
chr63492665034926821E06920482
chr63492709334927243E06920925
chr63495448534955035E06948317
chr63495518934955239E06949021
chr63495528134955703E06949113
chr63490229534902777E070-3391
chr63492240134922454E07016233
chr63492263634922780E07016468
chr63487475834874808E071-31360
chr63487695534877774E071-28394
chr63490229534902777E071-3391
chr63490613134906335E0710
chr63491156334911741E0715395
chr63492081134920980E07114643
chr63492098834921139E07114820
chr63492126734921759E07115099
chr63492456334924621E07118395
chr63492500334925144E07118835
chr63492517734925609E07119009
chr63492568834925771E07119520
chr63492665034926821E07120482
chr63492709334927243E07120925
chr63492950034929552E07123332
chr63494982934949935E07143661
chr63494993634950140E07143768
chr63495014834950398E07143980
chr63495448534955035E07148317
chr63495518934955239E07149021
chr63495528134955703E07149113
chr63489236534892486E072-13682
chr63492665034926821E07220482
chr63492950034929552E07223332
chr63494982934949935E07243661
chr63494993634950140E07243768
chr63495014834950398E07243980
chr63495448534955035E07248317
chr63495518934955239E07249021
chr63495528134955703E07249113
chr63485905934859393E073-46775
chr63485971834859798E073-46370
chr63485980334859887E073-46281
chr63485995334860013E073-46155
chr63488502334885073E073-21095
chr63488541734885470E073-20698
chr63489578034895832E073-10336
chr63489610634896283E073-9885
chr63492456334924621E07318395
chr63492500334925144E07318835
chr63492517734925609E07319009
chr63492665034926821E07320482
chr63492709334927243E07320925
chr63495448534955035E07348317
chr63495518934955239E07349021
chr63495528134955703E07349113
chr63485980334859887E074-46281
chr63485995334860013E074-46155
chr63486478534864873E074-41295
chr63486492834865364E074-40804
chr63486558734865702E074-40466
chr63487695534877774E074-28394
chr63487899634879036E074-27132
chr63489236534892486E074-13682
chr63489307434893304E074-12864
chr63492197334922023E07415805
chr63492210934922169E07415941
chr63492456334924621E07418395
chr63492500334925144E07418835
chr63492517734925609E07419009
chr63492568834925771E07419520
chr63492665034926821E07420482
chr63492709334927243E07420925
chr63492871734928763E07422549
chr63492878934928839E07422621
chr63492891334928957E07422745
chr63492899334929152E07422825
chr63494982934949935E07443661
chr63494993634950140E07443768
chr63495014834950398E07443980
chr63495448534955035E07448317
chr63495518934955239E07449021
chr63495528134955703E07449113
chr63485905934859393E081-46775
chr63490229534902777E081-3391
chr63495448534955035E08148317
chr63495518934955239E08149021
chr63495528134955703E08149113
chr63485905934859393E082-46775
chr63485971834859798E082-46370
chr63485980334859887E082-46281
chr63485995334860013E082-46155
chr63490229534902777E082-3391
chr63495448534955035E08248317
chr63495518934955239E08249021
chr63495528134955703E08249113










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63485752934857703E067-48465
chr63485775234857911E067-48257
chr63485752934857703E068-48465
chr63485775234857911E068-48257
chr63485752934857703E069-48465
chr63485775234857911E069-48257
chr63485752934857703E070-48465
chr63485775234857911E070-48257
chr63485752934857703E071-48465
chr63485775234857911E071-48257
chr63485752934857703E072-48465
chr63485775234857911E072-48257
chr63485752934857703E073-48465
chr63485775234857911E073-48257
chr63485752934857703E074-48465
chr63485775234857911E074-48257
chr63485752934857703E081-48465
chr63485775234857911E081-48257
chr63485752934857703E082-48465
chr63485775234857911E082-48257