rs2114008

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0308 (9222/29910,GnomAD)
C=0362 (10546/29118,TOPMED)
C=0306 (1531/5008,1000G)
C=0235 (905/3854,ALSPAC)
C=0228 (844/3708,TWINSUK)
chr4:133390458 (GRCh38.p7) (4q28.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.133390458T>C
GRCh37.p13 chr 4NC_000004.11:g.134311613T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.415C=0.585
1000GenomesAmericanSub694T=0.760C=0.240
1000GenomesEast AsianSub1008T=0.935C=0.065
1000GenomesEuropeSub1006T=0.755C=0.245
1000GenomesGlobalStudy-wide5008T=0.694C=0.306
1000GenomesSouth AsianSub978T=0.720C=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.765C=0.235
The Genome Aggregation DatabaseAfricanSub8704T=0.475C=0.525
The Genome Aggregation DatabaseAmericanSub836T=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1622T=0.948C=0.052
The Genome Aggregation DatabaseEuropeSub18446T=0.766C=0.233
The Genome Aggregation DatabaseGlobalStudy-wide29910T=0.691C=0.308
The Genome Aggregation DatabaseOtherSub302T=0.820C=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.637C=0.362
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.772C=0.228
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
rs21140080.000956alcohol dependence20201924

eQTL of rs2114008 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 rs2114008 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.