rs7296295

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0335 (10001/29776,GnomAD)
A=0338 (9849/29118,TOPMED)
A=0267 (1337/5008,1000G)
A=0345 (1329/3854,ALSPAC)
A=0349 (1293/3708,TWINSUK)
chr12:8986686 (GRCh38.p7) (12p13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.8986686G>A
GRCh37.p13 chr 12NC_000012.11:g.9139282G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.700A=0.300
1000GenomesAmericanSub694G=0.580A=0.420
1000GenomesEast AsianSub1008G=0.937A=0.063
1000GenomesEuropeSub1006G=0.663A=0.337
1000GenomesGlobalStudy-wide5008G=0.733A=0.267
1000GenomesSouth AsianSub978G=0.750A=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.655A=0.345
The Genome Aggregation DatabaseAfricanSub8678G=0.688A=0.312
The Genome Aggregation DatabaseAmericanSub832G=0.620A=0.380
The Genome Aggregation DatabaseEast AsianSub1610G=0.944A=0.056
The Genome Aggregation DatabaseEuropeSub18354G=0.629A=0.370
The Genome Aggregation DatabaseGlobalStudy-wide29776G=0.664A=0.335
The Genome Aggregation DatabaseOtherSub302G=0.710A=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.661A=0.338
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.651A=0.349
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs72962950.000224alcohol dependence24277619

eQTL of rs7296295 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr12:9139282KLRG1ENSG00000139187.5G>A1.5793e-836642Caudate_basal_ganglia

meQTL of rs7296295 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 )
chr1291004089100609E067-38673
chr1291000669100112E068-39170
chr1291001899100331E068-38951
chr1291004089100609E068-38673
chr1290997149099764E069-39518
chr1291000669100112E069-39170
chr1291001899100331E069-38951
chr1291004089100609E069-38673
chr1291001899100331E070-38951
chr1291004089100609E070-38673
chr1291004089100609E071-38673
chr1291001899100331E072-38951
chr1291004089100609E072-38673
chr1291001899100331E073-38951
chr1291004089100609E073-38673
chr1291000669100112E074-39170
chr1291001899100331E074-38951
chr1291004089100609E074-38673
chr1291001899100331E082-38951
chr1291004089100609E082-38673









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1291010399104134E067-35148
chr1291010399104134E068-35148
chr1291010399104134E069-35148
chr1291010399104134E070-35148
chr1291010399104134E071-35148
chr1291010399104134E072-35148
chr1291010399104134E073-35148
chr1291010399104134E074-35148
chr1291010399104134E082-35148