rs2674050

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0246 (7381/29922,GnomAD)
T=0234 (6819/29116,TOPMED)
T=0308 (1541/5008,1000G)
T=0306 (1179/3854,ALSPAC)
T=0313 (1161/3708,TWINSUK)
chr2:59542182 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.59542182C>T
GRCh37.p13 chr 2NC_000002.11:g.59769317C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.908T=0.092
1000GenomesAmericanSub694C=0.610T=0.390
1000GenomesEast AsianSub1008C=0.477T=0.523
1000GenomesEuropeSub1006C=0.688T=0.312
1000GenomesGlobalStudy-wide5008C=0.692T=0.308
1000GenomesSouth AsianSub978C=0.690T=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.694T=0.306
The Genome Aggregation DatabaseAfricanSub8704C=0.883T=0.117
The Genome Aggregation DatabaseAmericanSub836C=0.600T=0.400
The Genome Aggregation DatabaseEast AsianSub1612C=0.470T=0.530
The Genome Aggregation DatabaseEuropeSub18468C=0.725T=0.274
The Genome Aggregation DatabaseGlobalStudy-wide29922C=0.753T=0.246
The Genome Aggregation DatabaseOtherSub302C=0.660T=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.765T=0.234
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.687T=0.313
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs26740506.85E-05alcohol consumption23743675

eQTL of rs2674050 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 rs2674050 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 )
chr25981223659812346E07042919
chr25981267359813110E07043356
chr25981330659813694E07043989
chr25981267359813110E07143356
chr25981267359813110E07243356
chr25981267359813110E07443356
chr25979357059793733E08124253
chr25979377559794244E08124458
chr25979429459794429E08124977
chr25979448259795096E08125165
chr25979531859795414E08126001
chr25979556659795892E08126249
chr25979831859798751E08129001
chr25979946259799668E08130145
chr25981267359813110E08143356
chr25979357059793733E08224253
chr25979377559794244E08224458
chr25979429459794429E08224977
chr25979448259795096E08225165
chr25979531859795414E08226001
chr25981223659812346E08242919
chr25981267359813110E08243356
chr25981330659813694E08243989
chr25981540359815727E08246086
chr25981573359815897E08246416