rs4295599

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
A==0317 (9487/29898,GnomAD)
A==0363 (10573/29118,TOPMED)
A==0329 (1648/5008,1000G)
A==0250 (963/3854,ALSPAC)
A==0231 (856/3708,TWINSUK)
chr7:118997601 (GRCh38.p7) (7q31.31)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.118997601A>C
GRCh37.p13 chr 7NC_000007.13:g.118637655A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.585C=0.415
1000GenomesAmericanSub694A=0.240C=0.760
1000GenomesEast AsianSub1008A=0.329C=0.671
1000GenomesEuropeSub1006A=0.229C=0.771
1000GenomesGlobalStudy-wide5008A=0.329C=0.671
1000GenomesSouth AsianSub978A=0.150C=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.250C=0.750
The Genome Aggregation DatabaseAfricanSub8694A=0.512C=0.488
The Genome Aggregation DatabaseAmericanSub832A=0.220C=0.780
The Genome Aggregation DatabaseEast AsianSub1606A=0.313C=0.687
The Genome Aggregation DatabaseEuropeSub18464A=0.231C=0.768
The Genome Aggregation DatabaseGlobalStudy-wide29898A=0.317C=0.682
The Genome Aggregation DatabaseOtherSub302A=0.260C=0.740
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.363C=0.636
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.231C=0.769
PMID Title Author Journal
22613542ANKRD7 and CYTL1 are novel risk genes for alcohol drinking behavior.Chen XDChin Med J (Engl)

P-Value

SNP ID p-value Traits Study
rs42955995.79E-05alcohol consumption22613542

eQTL of rs4295599 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 rs4295599 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 )
chr7118614632118614702E081-22953
chr7118614812118615340E081-22315
chr7118639808118640007E0812153
chr7118640023118640111E0812368
chr7118646613118646739E0818958
chr7118647292118647578E0819637