rs814786

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0149 (4472/29962,GnomAD)
C==0121 (3528/29118,TOPMED)
C==0206 (1030/5008,1000G)
C==0145 (560/3854,ALSPAC)
C==0151 (561/3708,TWINSUK)
chr5:5119528 (GRCh38.p7) (5p15.32)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.5119528C>T
GRCh37.p13 chr 5NC_000005.9:g.5119641C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.053T=0.947
1000GenomesAmericanSub694C=0.180T=0.820
1000GenomesEast AsianSub1008C=0.563T=0.437
1000GenomesEuropeSub1006C=0.158T=0.842
1000GenomesGlobalStudy-wide5008C=0.206T=0.794
1000GenomesSouth AsianSub978C=0.110T=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.145T=0.855
The Genome Aggregation DatabaseAfricanSub8728C=0.078T=0.922
The Genome Aggregation DatabaseAmericanSub836C=0.230T=0.770
The Genome Aggregation DatabaseEast AsianSub1612C=0.510T=0.490
The Genome Aggregation DatabaseEuropeSub18484C=0.146T=0.853
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.149T=0.850
The Genome Aggregation DatabaseOtherSub302C=0.210T=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.121T=0.878
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.151T=0.849
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs8147860.000105alcohol consumption23743675

eQTL of rs814786 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 rs814786 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 )
chr550698085070099E067-49542
chr550698085070099E068-49542
chr550698085070099E069-49542
chr551423025142348E08222661
chr551423585142522E08222717




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr551397345141096E06720093
chr551411475141237E06721506
chr551412925141449E06721651
chr551414815141534E06721840
chr551397345141096E06820093
chr551411475141237E06821506
chr551412925141449E06821651
chr551414815141534E06821840
chr551394135139564E06919772
chr551397345141096E06920093
chr551411475141237E06921506
chr551412925141449E06921651
chr551397345141096E07120093
chr551412925141449E07121651
chr551414815141534E07121840
chr551397345141096E07220093
chr551411475141237E07221506
chr551412925141449E07221651
chr551397345141096E07320093
chr551411475141237E07421506
chr551412925141449E07421651
chr551412925141449E08121651
chr551414815141534E08121840
chr551397345141096E08220093