rs2738652

Homo sapiens
T>A
WWOX : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0475 (14226/29914,GnomAD)
T==0410 (11962/29118,TOPMED)
T==0375 (1877/5008,1000G)
A=0314 (1211/3854,ALSPAC)
A=0318 (1179/3708,TWINSUK)
chr16:78460459 (GRCh38.p7) (16q23.1)
ND
GWASdb2
1   publication(s)
See rs on genome
70 Enhancers around
18 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.78460459T>A
GRCh37.p13 chr 16NC_000016.9:g.78494356T>A
WWOX RefSeqGeneNG_011698.1:g.365806T>A

Gene: WWOX, WW domain containing oxidoreductase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
WWOX transcript variant 4NM_001291997.1:c.N/AIntron Variant
WWOX transcript variant 1NM_016373.3:c.N/AIntron Variant
WWOX transcript variant 2NM_130791.3:c.N/AGenic Downstream Transcript Variant
WWOX transcript variant 3NR_120435.1:n.N/AGenic Downstream Transcript Variant
WWOX transcript variant 5NR_120436.1:n.N/AGenic Downstream Transcript Variant
WWOX transcript variant X1XM_011523101.2:c.N/AIntron Variant
WWOX transcript variant X2XM_011523103.2:c.N/AIntron Variant
WWOX transcript variant X3XM_011523104.2:c.N/AIntron Variant
WWOX transcript variant X6XM_017023279.1:c.N/AGenic Upstream Transcript Variant
WWOX transcript variant X5XM_011523105.2:c.N/AGenic Downstream Transcript Variant
WWOX transcript variant X4XM_017023278.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.032A=0.968
1000GenomesAmericanSub694T=0.430A=0.570
1000GenomesEast AsianSub1008T=0.465A=0.535
1000GenomesEuropeSub1006T=0.679A=0.321
1000GenomesGlobalStudy-wide5008T=0.375A=0.625
1000GenomesSouth AsianSub978T=0.390A=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.686A=0.314
The Genome Aggregation DatabaseAfricanSub8704T=0.128A=0.872
The Genome Aggregation DatabaseAmericanSub836T=0.380A=0.620
The Genome Aggregation DatabaseEast AsianSub1610T=0.420A=0.580
The Genome Aggregation DatabaseEuropeSub18462T=0.646A=0.353
The Genome Aggregation DatabaseGlobalStudy-wide29914T=0.475A=0.524
The Genome Aggregation DatabaseOtherSub302T=0.600A=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.410A=0.589
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.682A=0.318
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
rs27386520.000345nicotine dependence17158188

eQTL of rs2738652 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 rs2738652 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 )
chr167849441478494547E06758
chr167849471678494826E067360
chr167851951478519594E06725158
chr167853692878537007E06742572
chr167853745678540586E06743100
chr167849401278494062E068-294
chr167849441478494547E06858
chr167849471678494826E068360
chr167849678078496892E0682424
chr167849705378497119E0682697
chr167853745678540586E06843100
chr167849441478494547E06958
chr167849471678494826E069360
chr167851951478519594E06925158
chr167852296878523008E06928612
chr167852312178523506E06928765
chr167852359478523866E06929238
chr167852400278524046E06929646
chr167852405378524103E06929697
chr167853745678540586E06943100
chr167849705378497119E0702697
chr167852296878523008E07028612
chr167852312178523506E07028765
chr167852359478523866E07029238
chr167852400278524046E07029646
chr167852405378524103E07029697
chr167853745678540586E07043100
chr167849441478494547E07158
chr167849471678494826E071360
chr167849705378497119E0712697
chr167852312178523506E07128765
chr167852359478523866E07129238
chr167852400278524046E07129646
chr167852405378524103E07129697
chr167853284778533067E07138491
chr167853345878533520E07139102
chr167853361978533878E07139263
chr167853402178534162E07139665
chr167853443978534489E07140083
chr167853745678540586E07143100
chr167849441478494547E07258
chr167849471678494826E072360
chr167852296878523008E07228612
chr167852312178523506E07228765
chr167852359478523866E07229238
chr167852400278524046E07229646
chr167852405378524103E07229697
chr167854138278541432E07247026
chr167854147078541569E07247114
chr167849441478494547E07358
chr167849471678494826E073360
chr167849705378497119E0732697
chr167853745678540586E07343100
chr167847112978471207E074-23149
chr167847121478471591E074-22765
chr167849401278494062E074-294
chr167849441478494547E07458
chr167849471678494826E074360
chr167849678078496892E0742424
chr167852296878523008E07428612
chr167852312178523506E07428765
chr167852359478523866E07429238
chr167852400278524046E07429646
chr167852405378524103E07429697
chr167852588078526125E07431524
chr167853745678540586E07443100
chr167852359478523866E08129238
chr167852400278524046E08129646
chr167852405378524103E08129697
chr167851951478519594E08225158










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr167849616078496371E0671804
chr167849645078496557E0672094
chr167849666078496732E0672304
chr167849616078496371E0681804
chr167849645078496557E0682094
chr167849666078496732E0682304
chr167849616078496371E0691804
chr167849645078496557E0692094
chr167849666078496732E0692304
chr167849616078496371E0711804
chr167849645078496557E0712094
chr167849666078496732E0712304
chr167849616078496371E0721804
chr167849645078496557E0722094
chr167849666078496732E0722304
chr167849616078496371E0731804
chr167849645078496557E0732094
chr167849666078496732E0732304