rs7144713

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0125 (3764/29926,GnomAD)
C=0123 (3598/29118,TOPMED)
C=0124 (622/5008,1000G)
C=0124 (478/3854,ALSPAC)
C=0123 (457/3708,TWINSUK)
chr14:57433176 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57433176T>C
GRCh37.p13 chr 14NC_000014.8:g.57899894T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.878C=0.122
1000GenomesAmericanSub694T=0.930C=0.070
1000GenomesEast AsianSub1008T=0.813C=0.187
1000GenomesEuropeSub1006T=0.896C=0.104
1000GenomesGlobalStudy-wide5008T=0.876C=0.124
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.876C=0.124
The Genome Aggregation DatabaseAfricanSub8710T=0.871C=0.129
The Genome Aggregation DatabaseAmericanSub836T=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1618T=0.854C=0.146
The Genome Aggregation DatabaseEuropeSub18462T=0.873C=0.126
The Genome Aggregation DatabaseGlobalStudy-wide29926T=0.874C=0.125
The Genome Aggregation DatabaseOtherSub300T=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.876C=0.123
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.877C=0.123
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
rs71447130.00071alcohol dependence20201924

eQTL of rs7144713 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 rs7144713 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 )
chr145786149457861544E067-38350
chr145786006157860141E068-39753
chr145786006157860141E070-39753
chr145788403457884166E070-15728
chr145786006157860141E071-39753
chr145786149457861544E071-38350
chr145786600757866112E072-33782
chr145786149457861544E081-38350
chr145788403457884166E081-15728
chr145788421757884343E081-15551
chr145786006157860141E082-39753
chr145788403457884166E082-15728
chr145788421757884343E082-15551







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145785623457859075E067-40819
chr145785915857859400E067-40494
chr145785623457859075E068-40819
chr145785915857859400E068-40494
chr145785623457859075E069-40819
chr145785915857859400E069-40494
chr145785623457859075E070-40819
chr145785915857859400E070-40494
chr145785623457859075E071-40819
chr145785915857859400E071-40494
chr145785623457859075E072-40819
chr145785915857859400E072-40494
chr145785623457859075E073-40819
chr145785915857859400E073-40494
chr145785623457859075E074-40819
chr145785915857859400E074-40494
chr145785623457859075E081-40819
chr145785915857859400E081-40494
chr145785623457859075E082-40819
chr145785915857859400E082-40494