rs904050

Homo sapiens
T>G
LOC107986291 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0311 (9296/29890,GnomAD)
G=0280 (8155/29118,TOPMED)
G=0292 (1460/5008,1000G)
G=0296 (1142/3854,ALSPAC)
G=0278 (1029/3708,TWINSUK)
chr4:76904936 (GRCh38.p7) (4q21.1)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.76904936T>G
GRCh37.p13 chr 4NC_000004.11:g.77826089T>G

Gene: LOC107986291, uncharacterized LOC107986291(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107986291 transcriptXR_001741737.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.668G=0.332
1000GenomesAmericanSub694T=0.770G=0.230
1000GenomesEast AsianSub1008T=0.773G=0.227
1000GenomesEuropeSub1006T=0.665G=0.335
1000GenomesGlobalStudy-wide5008T=0.708G=0.292
1000GenomesSouth AsianSub978T=0.700G=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.704G=0.296
The Genome Aggregation DatabaseAfricanSub8692T=0.685G=0.315
The Genome Aggregation DatabaseAmericanSub838T=0.750G=0.250
The Genome Aggregation DatabaseEast AsianSub1616T=0.788G=0.212
The Genome Aggregation DatabaseEuropeSub18444T=0.678G=0.321
The Genome Aggregation DatabaseGlobalStudy-wide29890T=0.689G=0.311
The Genome Aggregation DatabaseOtherSub300T=0.760G=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.719G=0.280
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.722G=0.278
PMID Title Author Journal
22377092ANAPC1 and SLCO3A1 are associated with nicotine dependence: meta-analysis of genome-wide association studies.Wang KSDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs9040502.47E-05nicotine dependence (smoking)22377092

eQTL of rs904050 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 rs904050 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 )
chr47787584677875991E06749757
chr47787356377873624E06847474
chr47787365077873720E06847561
chr47787395177874029E06847862
chr47787410777874157E06848018
chr47787427677874382E06848187
chr47787526677875355E06849177
chr47787566177875739E06849572
chr47787584677875991E06849757
chr47787526677875355E06949177
chr47787566177875739E06949572
chr47787584677875991E06949757
chr47777689377778716E070-47373
chr47777965377779715E070-46374
chr47777973777779777E070-46312
chr47781550177815635E070-10454
chr47781576277816386E070-9703
chr47786845577868572E07042366
chr47787526677875355E07149177
chr47787566177875739E07149572
chr47787584677875991E07149757
chr47781689077817039E072-9050
chr47787526677875355E07249177
chr47787566177875739E07249572
chr47787584677875991E07249757
chr47777689377778716E073-47373
chr47787395177874029E07347862
chr47787410777874157E07348018
chr47787427677874382E07348187
chr47787526677875355E07349177
chr47787566177875739E07349572
chr47787584677875991E07349757
chr47787566177875739E07449572
chr47781550177815635E081-10454
chr47781576277816386E081-9703
chr47781689077817039E081-9050
chr47782353477823997E081-2092
chr47786845577868572E08142366
chr47787526677875355E08149177
chr47787566177875739E08149572
chr47787584677875991E08149757
chr47777689377778716E082-47373
chr47781550177815635E082-10454
chr47781689077817039E082-9050
chr47787526677875355E08249177
chr47787566177875739E08249572
chr47787584677875991E08249757










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr47781776777817850E067-8239
chr47781785877818092E067-7997
chr47781816977818697E067-7392
chr47781871577819699E067-6390
chr47786926377872544E06743174
chr47787265577872833E06746566
chr47781816977818697E068-7392
chr47781871577819699E068-6390
chr47786926377872544E06843174
chr47787265577872833E06846566
chr47781776777817850E069-8239
chr47781785877818092E069-7997
chr47781816977818697E069-7392
chr47781871577819699E069-6390
chr47786926377872544E06943174
chr47787265577872833E06946566
chr47781816977818697E070-7392
chr47781871577819699E070-6390
chr47786926377872544E07043174
chr47787265577872833E07046566
chr47781816977818697E071-7392
chr47781871577819699E071-6390
chr47786926377872544E07143174
chr47787265577872833E07146566
chr47781776777817850E072-8239
chr47781785877818092E072-7997
chr47781816977818697E072-7392
chr47781871577819699E072-6390
chr47786926377872544E07243174
chr47787265577872833E07246566
chr47781776777817850E073-8239
chr47781785877818092E073-7997
chr47781816977818697E073-7392
chr47781871577819699E073-6390
chr47786926377872544E07343174
chr47787265577872833E07346566
chr47781816977818697E074-7392
chr47781871577819699E074-6390
chr47786926377872544E07443174
chr47786926377872544E08143174
chr47787265577872833E08146566
chr47781776777817850E082-8239
chr47781785877818092E082-7997
chr47781816977818697E082-7392
chr47781871577819699E082-6390
chr47786926377872544E08243174
chr47787265577872833E08246566