rs2166512

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0306 (9163/29942,GnomAD)
C=0317 (9246/29118,TOPMED)
C=0232 (1164/5008,1000G)
C=0359 (1384/3854,ALSPAC)
C=0371 (1374/3708,TWINSUK)
chr2:176206453 (GRCh38.p7) (2q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
20 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.176206453T>C
GRCh37.p13 chr 2NC_000002.11:g.177071181T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.707C=0.293
1000GenomesAmericanSub694T=0.800C=0.200
1000GenomesEast AsianSub1008T=0.938C=0.062
1000GenomesEuropeSub1006T=0.636C=0.364
1000GenomesGlobalStudy-wide5008T=0.768C=0.232
1000GenomesSouth AsianSub978T=0.790C=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.641C=0.359
The Genome Aggregation DatabaseAfricanSub8712T=0.717C=0.283
The Genome Aggregation DatabaseAmericanSub838T=0.790C=0.210
The Genome Aggregation DatabaseEast AsianSub1616T=0.929C=0.071
The Genome Aggregation DatabaseEuropeSub18474T=0.659C=0.340
The Genome Aggregation DatabaseGlobalStudy-wide29942T=0.694C=0.306
The Genome Aggregation DatabaseOtherSub302T=0.620C=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.682C=0.317
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.629C=0.371
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs21665124.89E-06alcohol dependence23089632

eQTL of rs2166512 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 rs2166512 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 )
chr2177056266177056434E067-14747
chr2177057173177057353E067-13828
chr2177107016177107202E06735835
chr2177107374177107457E06736193
chr2177057746177058334E068-12847
chr2177056266177056434E069-14747
chr2177057173177057353E069-13828
chr2177098836177099229E06927655
chr2177099284177099390E06928103
chr2177099442177099512E06928261
chr2177107016177107202E06935835
chr2177107374177107457E06936193
chr2177040485177040739E071-30442
chr2177056266177056434E071-14747
chr2177098836177099229E07127655
chr2177099284177099390E07128103
chr2177107016177107202E07235835
chr2177099621177100012E07428440
chr2177107016177107202E07435835
chr2177107374177107457E07436193






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2177042446177043741E067-27440
chr2177051720177055245E067-15936
chr2177111567177111683E06740386
chr2177051720177055245E068-15936
chr2177042446177043741E069-27440
chr2177051720177055245E069-15936
chr2177051720177055245E071-15936
chr2177051720177055245E072-15936
chr2177051720177055245E073-15936
chr2177042446177043741E074-27440
chr2177051720177055245E074-15936
chr2177111567177111683E07440386