rs1737727

Homo sapiens
T>C
ANKS1A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0338 (10129/29914,GnomAD)
C=0383 (11152/29118,TOPMED)
C=0448 (2245/5008,1000G)
C=0189 (728/3854,ALSPAC)
C=0206 (764/3708,TWINSUK)
chr6:34936711 (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.34936711T>C
GRCh37.p13 chr 6NC_000006.11:g.34904488T>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=0.328C=0.672
1000GenomesAmericanSub694T=0.710C=0.290
1000GenomesEast AsianSub1008T=0.410C=0.590
1000GenomesEuropeSub1006T=0.795C=0.205
1000GenomesGlobalStudy-wide5008T=0.552C=0.448
1000GenomesSouth AsianSub978T=0.640C=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.811C=0.189
The Genome Aggregation DatabaseAfricanSub8680T=0.409C=0.591
The Genome Aggregation DatabaseAmericanSub838T=0.750C=0.250
The Genome Aggregation DatabaseEast AsianSub1614T=0.379C=0.621
The Genome Aggregation DatabaseEuropeSub18480T=0.800C=0.199
The Genome Aggregation DatabaseGlobalStudy-wide29914T=0.661C=0.338
The Genome Aggregation DatabaseOtherSub302T=0.690C=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.617C=0.383
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.794C=0.206
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
rs17377275.5E-05alcoholism (heaviness of drinking)21529783

eQTL of rs1737727 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 rs1737727 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 )
chr63485905934859393E067-45095
chr63485971834859798E067-44690
chr63485980334859887E067-44601
chr63485995334860013E067-44475
chr63487695534877774E067-26714
chr63489236534892486E067-12002
chr63492456334924621E06720075
chr63492500334925144E06720515
chr63492517734925609E06720689
chr63492568834925771E06721200
chr63492665034926821E06722162
chr63494982934949935E06745341
chr63494993634950140E06745448
chr63495014834950398E06745660
chr63487394534874308E068-30180
chr63487436534874462E068-30026
chr63487475834874808E068-29680
chr63489610634896283E068-8205
chr63490229534902777E068-1711
chr63490283134902895E068-1593
chr63490290734902966E068-1522
chr63492126734921759E06816779
chr63492456334924621E06820075
chr63492500334925144E06820515
chr63492517734925609E06820689
chr63492568834925771E06821200
chr63492665034926821E06822162
chr63492709334927243E06822605
chr63492878934928839E06824301
chr63492891334928957E06824425
chr63492899334929152E06824505
chr63492950034929552E06825012
chr63494982934949935E06845341
chr63494993634950140E06845448
chr63495014834950398E06845660
chr63485905934859393E069-45095
chr63487695534877774E069-26714
chr63492081134920980E06916323
chr63492098834921139E06916500
chr63492126734921759E06916779
chr63492197334922023E06917485
chr63492210934922169E06917621
chr63492456334924621E06920075
chr63492500334925144E06920515
chr63492517734925609E06920689
chr63492568834925771E06921200
chr63492665034926821E06922162
chr63492709334927243E06922605
chr63490229534902777E070-1711
chr63492240134922454E07017913
chr63492263634922780E07018148
chr63487475834874808E071-29680
chr63487695534877774E071-26714
chr63490229534902777E071-1711
chr63490613134906335E0711643
chr63491156334911741E0717075
chr63492081134920980E07116323
chr63492098834921139E07116500
chr63492126734921759E07116779
chr63492456334924621E07120075
chr63492500334925144E07120515
chr63492517734925609E07120689
chr63492568834925771E07121200
chr63492665034926821E07122162
chr63492709334927243E07122605
chr63492950034929552E07125012
chr63494982934949935E07145341
chr63494993634950140E07145448
chr63495014834950398E07145660
chr63489236534892486E072-12002
chr63492665034926821E07222162
chr63492950034929552E07225012
chr63494982934949935E07245341
chr63494993634950140E07245448
chr63495014834950398E07245660
chr63485905934859393E073-45095
chr63485971834859798E073-44690
chr63485980334859887E073-44601
chr63485995334860013E073-44475
chr63488502334885073E073-19415
chr63488541734885470E073-19018
chr63489578034895832E073-8656
chr63489610634896283E073-8205
chr63492456334924621E07320075
chr63492500334925144E07320515
chr63492517734925609E07320689
chr63492665034926821E07322162
chr63492709334927243E07322605
chr63485980334859887E074-44601
chr63485995334860013E074-44475
chr63486478534864873E074-39615
chr63486492834865364E074-39124
chr63486558734865702E074-38786
chr63487695534877774E074-26714
chr63487899634879036E074-25452
chr63489236534892486E074-12002
chr63489307434893304E074-11184
chr63492197334922023E07417485
chr63492210934922169E07417621
chr63492456334924621E07420075
chr63492500334925144E07420515
chr63492517734925609E07420689
chr63492568834925771E07421200
chr63492665034926821E07422162
chr63492709334927243E07422605
chr63492871734928763E07424229
chr63492878934928839E07424301
chr63492891334928957E07424425
chr63492899334929152E07424505
chr63494982934949935E07445341
chr63494993634950140E07445448
chr63495014834950398E07445660
chr63485905934859393E081-45095
chr63490229534902777E081-1711
chr63485905934859393E082-45095
chr63485971834859798E082-44690
chr63485980334859887E082-44601
chr63485995334860013E082-44475
chr63490229534902777E082-1711










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63485502234857507E067-46981
chr63485752934857703E067-46785
chr63485775234857911E067-46577
chr63485502234857507E068-46981
chr63485752934857703E068-46785
chr63485775234857911E068-46577
chr63485502234857507E069-46981
chr63485752934857703E069-46785
chr63485775234857911E069-46577
chr63485502234857507E070-46981
chr63485752934857703E070-46785
chr63485775234857911E070-46577
chr63485502234857507E071-46981
chr63485752934857703E071-46785
chr63485775234857911E071-46577
chr63485502234857507E072-46981
chr63485752934857703E072-46785
chr63485775234857911E072-46577
chr63485502234857507E073-46981
chr63485752934857703E073-46785
chr63485775234857911E073-46577
chr63485502234857507E074-46981
chr63485752934857703E074-46785
chr63485775234857911E074-46577
chr63485502234857507E081-46981
chr63485752934857703E081-46785
chr63485775234857911E081-46577
chr63485502234857507E082-46981
chr63485752934857703E082-46785
chr63485775234857911E082-46577