rs283277

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0170 (5103/29970,GnomAD)
A=0164 (4797/29118,TOPMED)
A=0127 (635/5008,1000G)
A=0221 (852/3854,ALSPAC)
A=0215 (798/3708,TWINSUK)
chr20:54920285 (GRCh38.p7) (20q13.2)
ND
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.54920285C>A
GRCh37.p13 chr 20NC_000020.10:g.53536824C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.929A=0.071
1000GenomesAmericanSub694C=0.830A=0.170
1000GenomesEast AsianSub1008C=0.894A=0.106
1000GenomesEuropeSub1006C=0.780A=0.220
1000GenomesGlobalStudy-wide5008C=0.873A=0.127
1000GenomesSouth AsianSub978C=0.900A=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.779A=0.221
The Genome Aggregation DatabaseAfricanSub8722C=0.907A=0.093
The Genome Aggregation DatabaseAmericanSub838C=0.790A=0.210
The Genome Aggregation DatabaseEast AsianSub1622C=0.923A=0.077
The Genome Aggregation DatabaseEuropeSub18488C=0.786A=0.213
The Genome Aggregation DatabaseGlobalStudy-wide29970C=0.829A=0.170
The Genome Aggregation DatabaseOtherSub300C=0.850A=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.835A=0.164
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.785A=0.215
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs2832771.58E-05nicotine smoking19268276

eQTL of rs283277 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 rs283277 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 )
chr205355711153557377E08120287
chr205355761153557682E08120787
chr205355780153557855E08120977
chr205355791453558303E08121090
chr205355834953558538E08121525
chr205355690253556952E08220078
chr205355711153557377E08220287
chr205355761153557682E08220787
chr205355780153557855E08220977
chr205355791453558303E08221090