rs729314

Homo sapiens
C>A / C>T
None
Check p-value
SNV (Single Nucleotide Variation)
A=0124 (3728/29862,GnomAD)
A=0137 (4005/29118,TOPMED)
A=0109 (545/5008,1000G)
A=0110 (424/3854,ALSPAC)
A=0115 (425/3708,TWINSUK)
chr4:70299989 (GRCh38.p7) (4q13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.70299989C>A
GRCh38.p7 chr 4NC_000004.12:g.70299989C>T
GRCh37.p13 chr 4NC_000004.11:g.71165706C>A
GRCh37.p13 chr 4NC_000004.11:g.71165706C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.831A=0.169
1000GenomesAmericanSub694C=0.780A=0.220
1000GenomesEast AsianSub1008C=0.999A=0.001
1000GenomesEuropeSub1006C=0.898A=0.102
1000GenomesGlobalStudy-wide5008C=0.891A=0.109
1000GenomesSouth AsianSub978C=0.940A=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.890A=0.110
The Genome Aggregation DatabaseAfricanSub8678C=0.842T=0.000
The Genome Aggregation DatabaseAmericanSub836C=0.800T=0.00,
The Genome Aggregation DatabaseEast AsianSub1614C=0.999T=0.000
The Genome Aggregation DatabaseEuropeSub18432C=0.883T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29862C=0.875T=0.000
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.862A=0.137
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.885A=0.115
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs7293140.000335alcohol dependence20201924

eQTL of rs729314 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 rs729314 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 )
chr43308174033081841E07049642
chr43305924733059302E08127149
chr43305936833059698E08127270
chr43305980033059850E08127702
chr43305988833059980E08127790
chr43306250533062875E08130407
chr43306296033063039E08130862
chr43306311233063179E08131014
chr43306296033063039E08230862
chr43306311233063179E08231014