rs7008482

Homo sapiens
T>G
NSMCE2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0476 (14255/29922,GnomAD)
T==0453 (13216/29118,TOPMED)
T==0429 (2150/5008,1000G)
G=0300 (1156/3854,ALSPAC)
G=0297 (1103/3708,TWINSUK)
chr8:125255388 (GRCh38.p7) (8q24.13)
AD
GWASdb2
16   publication(s)
See rs on genome
149 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.125255388T>G
GRCh37.p13 chr 8NC_000008.10:g.126267630T>G

Gene: NSMCE2, NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NSMCE2 transcriptNM_173685.2:c.N/AIntron Variant
NSMCE2 transcript variant X2XM_005250875.2:c.N/AIntron Variant
NSMCE2 transcript variant X6XM_005250876.4:c.N/AIntron Variant
NSMCE2 transcript variant X3XM_011516974.2:c.N/AIntron Variant
NSMCE2 transcript variant X5XM_011516975.1:c.N/AIntron Variant
NSMCE2 transcript variant X1XM_017013330.1:c.N/AIntron Variant
NSMCE2 transcript variant X4XM_017013331.1:c.N/AIntron Variant
NSMCE2 transcript variant X7XM_017013332.1:c.N/AIntron Variant
NSMCE2 transcript variant X7XM_017013333.1:c.N/AIntron Variant
NSMCE2 transcript variant X8XM_017013334.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.063G=0.937
1000GenomesAmericanSub694T=0.620G=0.380
1000GenomesEast AsianSub1008T=0.565G=0.435
1000GenomesEuropeSub1006T=0.681G=0.319
1000GenomesGlobalStudy-wide5008T=0.429G=0.571
1000GenomesSouth AsianSub978T=0.390G=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.700G=0.300
The Genome Aggregation DatabaseAfricanSub8714T=0.151G=0.849
The Genome Aggregation DatabaseAmericanSub836T=0.680G=0.320
The Genome Aggregation DatabaseEast AsianSub1618T=0.550G=0.450
The Genome Aggregation DatabaseEuropeSub18452T=0.688G=0.311
The Genome Aggregation DatabaseGlobalStudy-wide29922T=0.523G=0.476
The Genome Aggregation DatabaseOtherSub302T=0.630G=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.453G=0.546
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.703G=0.297
PMID Title Author Journal
21051319Risk of urinary bladder cancer is associated with 8q24 variant rs9642880[T] in multiple racial/ethnic groups: results from the Los Angeles-Shanghai case-control study.Cortessis VKCancer Epidemiol Biomarkers Prev
20460480Susceptibility loci associated with prostate cancer progression and mortality.Gallagher DJClin Cancer Res
19602258Significance of common variants on human chromosome 8q24 in relation to the risk of prostate cancer in native Japanese men.Liu MBMC Genet
21829199Genetic architecture of prostate cancer in the Ashkenazi Jewish population.Vijai JBr J Cancer
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
19520795Novel single nucleotide polymorphism associations with colorectal cancer on chromosome 8q24 in African and European Americans.Kupfer SSCarcinogenesis
26347821Analysis of Prostate Cancer Susceptibility Variants in South African Men: Replicating Associations on Chromosomes 8q24 and 10q11.Fernandez PProstate Cancer
21071540Validation of genome-wide prostate cancer associations in men of African descent.Chang BLCancer Epidemiol Biomarkers Prev
222349228q24 risk alleles in West African and Caribbean men.Murphy ABProstate
19549807Prostate cancer risk associated loci in African Americans.Xu JCancer Epidemiol Biomarkers Prev
206348018q24 allelic imbalance and MYC gene copy number in primary prostate cancer.Chen HProstate Cancer Prostatic Dis
19366828Evaluation of 8q24 and 17q risk loci and prostate cancer mortality.Penney KLClin Cancer Res
17978284Confirmation study of prostate cancer risk variants at 8q24 in African Americans identifies a novel risk locus.Robbins CGenome Res
21637779Characterizing genetic risk at known prostate cancer susceptibility loci in African Americans.Haiman CAPLoS Genet
21483638Association between polymorphism rs6983267 and gastric cancer risk in Chinese population.Guo YWorld J Gastroenterol
19568772Results from a prostate cancer admixture mapping study in African-American men.Bock CHHum Genet

P-Value

SNP ID p-value Traits Study
rs70084820.00068alcohol dependence20201924

eQTL of rs7008482 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 rs7008482 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 )
chr8126231011126231086E067-36544
chr8126231155126233633E067-33997
chr8126236985126238935E067-28695
chr8126238939126239380E067-28250
chr8126239399126239452E067-28178
chr8126239457126239702E067-27928
chr8126241288126241450E067-26180
chr8126242321126242473E067-25157
chr8126242605126242661E067-24969
chr8126242705126242814E067-24816
chr8126242853126243298E067-24332
chr8126266887126267208E067-422
chr8126267288126267385E067-245
chr8126267390126267505E067-125
chr8126285134126286523E06717504
chr8126301182126302084E06733552
chr8126302165126302421E06734535
chr8126302624126302792E06734994
chr8126231155126233633E068-33997
chr8126236271126236427E068-31203
chr8126236456126236549E068-31081
chr8126236600126236671E068-30959
chr8126236826126236916E068-30714
chr8126236922126236962E068-30668
chr8126236985126238935E068-28695
chr8126238939126239380E068-28250
chr8126239399126239452E068-28178
chr8126239457126239702E068-27928
chr8126241288126241450E068-26180
chr8126242321126242473E068-25157
chr8126242605126242661E068-24969
chr8126242705126242814E068-24816
chr8126242853126243298E068-24332
chr8126266551126266705E068-925
chr8126266887126267208E068-422
chr8126285134126286523E06817504
chr8126301182126302084E06833552
chr8126302165126302421E06834535
chr8126302624126302792E06834994
chr8126302851126303016E06835221
chr8126219828126220300E069-47330
chr8126231155126233633E069-33997
chr8126236600126236671E069-30959
chr8126236985126238935E069-28695
chr8126238939126239380E069-28250
chr8126239399126239452E069-28178
chr8126239457126239702E069-27928
chr8126242605126242661E069-24969
chr8126242705126242814E069-24816
chr8126242853126243298E069-24332
chr8126243974126244055E069-23575
chr8126296533126296824E06928903
chr8126296847126296981E06929217
chr8126297087126297741E06929457
chr8126301182126302084E06933552
chr8126302165126302421E06934535
chr8126302624126302792E06934994
chr8126302851126303016E06935221
chr8126222590126222656E070-44974
chr8126222779126222853E070-44777
chr8126223096126223150E070-44480
chr8126223451126223563E070-44067
chr8126231155126233633E071-33997
chr8126236826126236916E071-30714
chr8126236922126236962E071-30668
chr8126236985126238935E071-28695
chr8126239399126239452E071-28178
chr8126239457126239702E071-27928
chr8126240772126241157E071-26473
chr8126241288126241450E071-26180
chr8126242321126242473E071-25157
chr8126242605126242661E071-24969
chr8126242705126242814E071-24816
chr8126242853126243298E071-24332
chr8126243449126243786E071-23844
chr8126243787126243969E071-23661
chr8126243974126244055E071-23575
chr8126266887126267208E071-422
chr8126267288126267385E071-245
chr8126267390126267505E071-125
chr8126296533126296824E07128903
chr8126296847126296981E07129217
chr8126301182126302084E07133552
chr8126302165126302421E07134535
chr8126302624126302792E07134994
chr8126302851126303016E07135221
chr8126303177126303227E07135547
chr8126219828126220300E072-47330
chr8126231155126233633E072-33997
chr8126236985126238935E072-28695
chr8126238939126239380E072-28250
chr8126239399126239452E072-28178
chr8126239457126239702E072-27928
chr8126242321126242473E072-25157
chr8126242605126242661E072-24969
chr8126242705126242814E072-24816
chr8126242853126243298E072-24332
chr8126243449126243786E072-23844
chr8126243787126243969E072-23661
chr8126243974126244055E072-23575
chr8126265463126265662E072-1968
chr8126266551126266705E072-925
chr8126266887126267208E072-422
chr8126267288126267385E072-245
chr8126267390126267505E072-125
chr8126290451126291191E07222821
chr8126296533126296824E07228903
chr8126300452126300551E07232822
chr8126300568126300645E07232938
chr8126301182126302084E07233552
chr8126238939126239380E073-28250
chr8126267288126267385E073-245
chr8126267390126267505E073-125
chr8126296533126296824E07328903
chr8126296847126296981E07329217
chr8126301182126302084E07333552
chr8126219828126220300E074-47330
chr8126220414126220496E074-47134
chr8126225887126226222E074-41408
chr8126226363126226785E074-40845
chr8126236985126238935E074-28695
chr8126238939126239380E074-28250
chr8126239399126239452E074-28178
chr8126239457126239702E074-27928
chr8126242321126242473E074-25157
chr8126242605126242661E074-24969
chr8126242705126242814E074-24816
chr8126242853126243298E074-24332
chr8126243449126243786E074-23844
chr8126243787126243969E074-23661
chr8126243974126244055E074-23575
chr8126270721126270850E0743091
chr8126270859126271109E0743229
chr8126287367126287882E07419737
chr8126288157126288507E07420527
chr8126301182126302084E07433552
chr8126302165126302421E07434535
chr8126302624126302792E07434994
chr8126302851126303016E07435221
chr8126231155126233633E081-33997
chr8126240549126240612E081-27018
chr8126297087126297741E08129457
chr8126297840126297880E08130210
chr8126298006126298063E08130376
chr8126298074126298182E08130444
chr8126298277126298405E08130647
chr8126296533126296824E08228903
chr8126296847126296981E08229217
chr8126297087126297741E08229457