rs814782

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0143 (4300/29964,GnomAD)
A==0112 (3279/29118,TOPMED)
A==0199 (996/5008,1000G)
A==0146 (561/3854,ALSPAC)
A==0151 (560/3708,TWINSUK)
chr5:5120689 (GRCh38.p7) (5p15.32)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.5120689A>G
GRCh37.p13 chr 5NC_000005.9:g.5120802A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.031G=0.969
1000GenomesAmericanSub694A=0.180G=0.820
1000GenomesEast AsianSub1008A=0.563G=0.437
1000GenomesEuropeSub1006A=0.157G=0.843
1000GenomesGlobalStudy-wide5008A=0.199G=0.801
1000GenomesSouth AsianSub978A=0.110G=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.146G=0.854
The Genome Aggregation DatabaseAfricanSub8728A=0.060G=0.940
The Genome Aggregation DatabaseAmericanSub838A=0.230G=0.770
The Genome Aggregation DatabaseEast AsianSub1608A=0.507G=0.493
The Genome Aggregation DatabaseEuropeSub18488A=0.146G=0.853
The Genome Aggregation DatabaseGlobalStudy-wide29964A=0.143G=0.856
The Genome Aggregation DatabaseOtherSub302A=0.210G=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.112G=0.887
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.151G=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
rs8147820.000107alcohol consumption23743675

eQTL of rs814782 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 rs814782 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 )
chr551423025142348E08221500
chr551423585142522E08221556

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr551397345141096E06718932
chr551411475141237E06720345
chr551412925141449E06720490
chr551414815141534E06720679
chr551397345141096E06818932
chr551411475141237E06820345
chr551412925141449E06820490
chr551414815141534E06820679
chr551394135139564E06918611
chr551397345141096E06918932
chr551411475141237E06920345
chr551412925141449E06920490
chr551397345141096E07118932
chr551412925141449E07120490
chr551414815141534E07120679
chr551397345141096E07218932
chr551411475141237E07220345
chr551412925141449E07220490
chr551397345141096E07318932
chr551411475141237E07420345
chr551412925141449E07420490
chr551412925141449E08120490
chr551414815141534E08120679
chr551397345141096E08218932