rs4916992

Homo sapiens
T>G
VWC2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0428 (12805/29880,GnomAD)
T==0451 (13132/29118,TOPMED)
G=0474 (2374/5008,1000G)
T==0378 (1455/3854,ALSPAC)
T==0395 (1465/3708,TWINSUK)
chr7:49793276 (GRCh38.p7) (7p12.2)
ND
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
27 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.49793276T>G
GRCh37.p13 chr 7NC_000007.13:g.49832872T>G

Gene: VWC2, von Willebrand factor C domain containing 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
VWC2 transcript variant 1NM_198570.4:c.N/AIntron Variant
VWC2 transcript variant 2NR_136188.1:n.N/AIntron Variant
VWC2 transcript variant X1XR_001744720.1:n.N/AIntron Variant
VWC2 transcript variant X2XR_001744721.1:n.N/AIntron Variant
VWC2 transcript variant X3XR_001744723.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.525G=0.475
1000GenomesAmericanSub694T=0.590G=0.410
1000GenomesEast AsianSub1008T=0.727G=0.273
1000GenomesEuropeSub1006T=0.363G=0.637
1000GenomesGlobalStudy-wide5008T=0.526G=0.474
1000GenomesSouth AsianSub978T=0.440G=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.378G=0.622
The Genome Aggregation DatabaseAfricanSub8690T=0.504G=0.496
The Genome Aggregation DatabaseAmericanSub838T=0.640G=0.360
The Genome Aggregation DatabaseEast AsianSub1616T=0.741G=0.259
The Genome Aggregation DatabaseEuropeSub18434T=0.356G=0.643
The Genome Aggregation DatabaseGlobalStudy-wide29880T=0.428G=0.571
The Genome Aggregation DatabaseOtherSub302T=0.400G=0.600
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.451G=0.549
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.395G=0.605
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs49169920.000898nicotine dependence17158188

eQTL of rs4916992 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 rs4916992 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 )
chr74982309749823353E069-9519

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr74981204949813590E067-19282
chr74981366449814131E067-18741
chr74981419149814785E067-18087
chr74981485649816032E067-16840
chr74981204949813590E068-19282
chr74981366449814131E068-18741
chr74981485649816032E068-16840
chr74981204949813590E069-19282
chr74981366449814131E069-18741
chr74981419149814785E069-18087
chr74981485649816032E069-16840
chr74981485649816032E070-16840
chr74981485649816032E071-16840
chr74981204949813590E072-19282
chr74981366449814131E072-18741
chr74981419149814785E072-18087
chr74981485649816032E072-16840
chr74981204949813590E073-19282
chr74981366449814131E073-18741
chr74981419149814785E073-18087
chr74981485649816032E073-16840
chr74981204949813590E074-19282
chr74981366449814131E074-18741
chr74981419149814785E074-18087
chr74981485649816032E074-16840
chr74981204949813590E082-19282
chr74981485649816032E082-16840