rs603217

Homo sapiens
G>A / G>C
None
Check p-value
SNV (Single Nucleotide Variation)
G==0387 (11577/29906,GnomAD)
G==0365 (10640/29118,TOPMED)
G==0383 (1918/5008,1000G)
G==0435 (1678/3854,ALSPAC)
G==0421 (1561/3708,TWINSUK)
chr2:234022878 (GRCh38.p7) (2q37.1)
ND
GWASdb2
1   publication(s)
See rs on genome
27 Enhancers around
81 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.234022878G>A
GRCh38.p7 chr 2NC_000002.12:g.234022878G>C
GRCh37.p13 chr 2NC_000002.11:g.234931522G>A
GRCh37.p13 chr 2NC_000002.11:g.234931522G>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.325C=0.675
1000GenomesAmericanSub694G=0.410C=0.590
1000GenomesEast AsianSub1008G=0.368C=0.632
1000GenomesEuropeSub1006G=0.400C=0.600
1000GenomesGlobalStudy-wide5008G=0.383C=0.617
1000GenomesSouth AsianSub978G=0.440C=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.435C=0.565
The Genome Aggregation DatabaseAfricanSub8710G=0.360C=0.640
The Genome Aggregation DatabaseAmericanSub834G=0.410C=0.59,
The Genome Aggregation DatabaseEast AsianSub1606G=0.389C=0.610
The Genome Aggregation DatabaseEuropeSub18454G=0.398C=0.601
The Genome Aggregation DatabaseGlobalStudy-wide29906G=0.387C=0.612
The Genome Aggregation DatabaseOtherSub302G=0.400C=0.60,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.365C=0.634
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.421C=0.579
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
rs6032170.000305nicotine smoking19268276

eQTL of rs603217 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 rs603217 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 )
chr2163226046163226382E06718566
chr2163172368163172412E068-35068
chr2163176493163176653E068-30827
chr2163176697163176760E068-30720
chr2163177839163177942E068-29538
chr2163178041163178131E068-29349
chr2163172368163172412E069-35068
chr2163176123163176422E069-31058
chr2163176493163176653E069-30827
chr2163176697163176760E069-30720
chr2163172368163172412E071-35068
chr2163176123163176422E071-31058
chr2163176493163176653E071-30827
chr2163176697163176760E071-30720
chr2163177062163177115E071-30365
chr2163177382163177504E071-29976
chr2163199777163199834E071-7646
chr2163227564163227848E07120084
chr2163227977163228027E07120497
chr2163176697163176760E072-30720
chr2163172368163172412E073-35068
chr2163199518163199606E073-7874
chr2163199777163199834E073-7646
chr2163177839163177942E074-29538
chr2163157571163158128E081-49352
chr2163256616163256727E08149136
chr2163230743163231044E08223263









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2163173568163173670E067-33810
chr2163173685163174071E067-33409
chr2163174116163174224E067-33256
chr2163174250163175964E067-31516
chr2163175966163176108E067-31372
chr2163199932163200012E067-7468
chr2163200040163201482E067-5998
chr2163201610163201691E067-5789
chr2163201708163201881E067-5599
chr2163201983163202037E067-5443
chr2163173568163173670E068-33810
chr2163173685163174071E068-33409
chr2163174116163174224E068-33256
chr2163174250163175964E068-31516
chr2163175966163176108E068-31372
chr2163199932163200012E068-7468
chr2163200040163201482E068-5998
chr2163201610163201691E068-5789
chr2163201708163201881E068-5599
chr2163201983163202037E068-5443
chr2163173685163174071E069-33409
chr2163174116163174224E069-33256
chr2163174250163175964E069-31516
chr2163175966163176108E069-31372
chr2163199932163200012E069-7468
chr2163200040163201482E069-5998
chr2163201610163201691E069-5789
chr2163201708163201881E069-5599
chr2163201983163202037E069-5443
chr2163174250163175964E070-31516
chr2163200040163201482E070-5998
chr2163201610163201691E070-5789
chr2163201708163201881E070-5599
chr2163201983163202037E070-5443
chr2163173568163173670E071-33810
chr2163173685163174071E071-33409
chr2163174116163174224E071-33256
chr2163174250163175964E071-31516
chr2163175966163176108E071-31372
chr2163199932163200012E071-7468
chr2163200040163201482E071-5998
chr2163201610163201691E071-5789
chr2163201708163201881E071-5599
chr2163201983163202037E071-5443
chr2163173685163174071E072-33409
chr2163174116163174224E072-33256
chr2163174250163175964E072-31516
chr2163175966163176108E072-31372
chr2163199932163200012E072-7468
chr2163200040163201482E072-5998
chr2163201610163201691E072-5789
chr2163201708163201881E072-5599
chr2163201983163202037E072-5443
chr2163173568163173670E073-33810
chr2163173685163174071E073-33409
chr2163174116163174224E073-33256
chr2163174250163175964E073-31516
chr2163199932163200012E073-7468
chr2163200040163201482E073-5998
chr2163201610163201691E073-5789
chr2163201708163201881E073-5599
chr2163201983163202037E073-5443
chr2163174116163174224E074-33256
chr2163174250163175964E074-31516
chr2163199932163200012E074-7468
chr2163200040163201482E074-5998
chr2163201610163201691E074-5789
chr2163201708163201881E074-5599
chr2163201983163202037E074-5443
chr2163174250163175964E081-31516
chr2163175966163176108E081-31372
chr2163199932163200012E081-7468
chr2163200040163201482E081-5998
chr2163201610163201691E081-5789
chr2163201708163201881E081-5599
chr2163174250163175964E082-31516
chr2163199932163200012E082-7468
chr2163200040163201482E082-5998
chr2163201610163201691E082-5789
chr2163201708163201881E082-5599
chr2163201983163202037E082-5443