rs2619283

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0415 (12438/29912,GnomAD)
A=0410 (11957/29118,TOPMED)
A=0456 (2282/5008,1000G)
A=0390 (1504/3854,ALSPAC)
A=0416 (1544/3708,TWINSUK)
chr3:102172051 (GRCh38.p7) (3q12.3)
ND
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.102172051G>A
GRCh37.p13 chr 3NC_000003.11:g.101890895G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.573A=0.427
1000GenomesAmericanSub694G=0.420A=0.580
1000GenomesEast AsianSub1008G=0.462A=0.538
1000GenomesEuropeSub1006G=0.620A=0.380
1000GenomesGlobalStudy-wide5008G=0.544A=0.456
1000GenomesSouth AsianSub978G=0.600A=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.610A=0.390
The Genome Aggregation DatabaseAfricanSub8714G=0.583A=0.417
The Genome Aggregation DatabaseAmericanSub832G=0.460A=0.540
The Genome Aggregation DatabaseEast AsianSub1616G=0.453A=0.547
The Genome Aggregation DatabaseEuropeSub18448G=0.601A=0.398
The Genome Aggregation DatabaseGlobalStudy-wide29912G=0.584A=0.415
The Genome Aggregation DatabaseOtherSub302G=0.570A=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.589A=0.410
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.584A=0.416
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
rs26192830.000992nicotine smoking19268276

eQTL of rs2619283 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 rs2619283 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 )
chr3101861359101861470E071-29425
chr3101861657101861739E071-29156
chr3101881611101881667E071-9228
chr3101881737101882874E071-8021
chr3101897967101898120E0717072
chr3101899905101899974E0719010
chr3101924983101925904E07134088
chr3101924983101925904E08134088