rs999339

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0069 (2088/29976,GnomAD)
A=0061 (1781/29118,TOPMED)
A=0061 (307/5008,1000G)
A=0090 (345/3854,ALSPAC)
A=0083 (306/3708,TWINSUK)
chr17:10295614 (GRCh38.p7) (17p13.1)
ND
GWASdb2
1   publication(s)
See rs on genome
18 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.10295614G>A
GRCh37.p13 chr 17NC_000017.10:g.10198931G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.972A=0.028
1000GenomesAmericanSub694G=0.910A=0.090
1000GenomesEast AsianSub1008G=0.978A=0.022
1000GenomesEuropeSub1006G=0.894A=0.106
1000GenomesGlobalStudy-wide5008G=0.939A=0.061
1000GenomesSouth AsianSub978G=0.920A=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.910A=0.090
The Genome Aggregation DatabaseAfricanSub8726G=0.963A=0.037
The Genome Aggregation DatabaseAmericanSub838G=0.920A=0.080
The Genome Aggregation DatabaseEast AsianSub1622G=0.975A=0.025
The Genome Aggregation DatabaseEuropeSub18488G=0.911A=0.088
The Genome Aggregation DatabaseGlobalStudy-wide29976G=0.930A=0.069
The Genome Aggregation DatabaseOtherSub302G=0.920A=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.938A=0.061
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.917A=0.083
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
rs9993390.000616nicotine smoking19268276

eQTL of rs999339 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 rs999339 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 )
chr171017964810180055E068-18876
chr171018006710180364E068-18567
chr171019324110193408E068-5523
chr171019345710193697E068-5234
chr171017964810180055E070-18876
chr171019324110193408E071-5523
chr171017868710178737E081-20194
chr171018161110181748E081-17183
chr171018198710182272E081-16659
chr171018231110182617E081-16314
chr171018285110182901E081-16030
chr171022399010224034E08125059
chr171022417110224226E08125240
chr171024132610241624E08142395
chr171024186210241922E08142931
chr171024234610243030E08143415
chr171024314410243198E08144213
chr171024336410243526E08144433