rs4962416

Homo sapiens
T>C
CTBP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0208 (6254/29932,GnomAD)
C=0232 (6774/29118,TOPMED)
C=0186 (931/5008,1000G)
C=0288 (1110/3854,ALSPAC)
C=0281 (1041/3708,TWINSUK)
chr10:125008303 (GRCh38.p7) (10q26.13)
AD
GWASdb2
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.125008303T>C
GRCh37.p13 chr 10NC_000010.10:g.126696872T>C

Gene: CTBP2, C-terminal binding protein 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CTBP2 transcript variant 3NM_001083914.2:c.N/AIntron Variant
CTBP2 transcript variant 4NM_001290214.2:c.N/AIntron Variant
CTBP2 transcript variant 5NM_001290215.2:c.N/AIntron Variant
CTBP2 transcript variant 6NM_001321012.1:c.N/AIntron Variant
CTBP2 transcript variant 7NM_001321013.1:c.N/AIntron Variant
CTBP2 transcript variant 8NM_001321014.1:c.N/AIntron Variant
CTBP2 transcript variant 1NM_001329.3:c.N/AIntron Variant
CTBP2 transcript variant 2NM_022802.2:c.N/AIntron Variant
CTBP2 transcript variant X2XM_005269561.2:c.N/AIntron Variant
CTBP2 transcript variant X4XM_005269564.2:c.N/AIntron Variant
CTBP2 transcript variant X10XM_005269567.2:c.N/AIntron Variant
CTBP2 transcript variant X11XM_005269568.4:c.N/AIntron Variant
CTBP2 transcript variant X13XM_005269569.2:c.N/AIntron Variant
CTBP2 transcript variant X15XM_005269571.2:c.N/AIntron Variant
CTBP2 transcript variant X14XM_005269572.3:c.N/AIntron Variant
CTBP2 transcript variant X6XM_006717642.2:c.N/AIntron Variant
CTBP2 transcript variant X7XM_011539351.1:c.N/AIntron Variant
CTBP2 transcript variant X8XM_011539353.1:c.N/AIntron Variant
CTBP2 transcript variant X9XM_011539354.1:c.N/AIntron Variant
CTBP2 transcript variant X12XM_011539355.1:c.N/AIntron Variant
CTBP2 transcript variant X16XM_011539357.1:c.N/AIntron Variant
CTBP2 transcript variant X17XM_011539358.1:c.N/AIntron Variant
CTBP2 transcript variant X3XM_017015756.1:c.N/AIntron Variant
CTBP2 transcript variant X5XM_017015757.1:c.N/AIntron Variant
CTBP2 transcript variant X1XM_011539349.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.834C=0.166
1000GenomesAmericanSub694T=0.810C=0.190
1000GenomesEast AsianSub1008T=0.991C=0.009
1000GenomesEuropeSub1006T=0.725C=0.275
1000GenomesGlobalStudy-wide5008T=0.814C=0.186
1000GenomesSouth AsianSub978T=0.700C=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.712C=0.288
The Genome Aggregation DatabaseAfricanSub8722T=0.840C=0.160
The Genome Aggregation DatabaseAmericanSub836T=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1622T=0.994C=0.006
The Genome Aggregation DatabaseEuropeSub18450T=0.753C=0.246
The Genome Aggregation DatabaseGlobalStudy-wide29932T=0.791C=0.208
The Genome Aggregation DatabaseOtherSub302T=0.660C=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.767C=0.232
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.719C=0.281
PMID Title Author Journal
21829199Genetic architecture of prostate cancer in the Ashkenazi Jewish population.Vijai JBr J Cancer
19188186Genetic variants and family history predict prostate cancer similar to prostate-specific antigen.Zheng SLClin Cancer Res
21820706Prostate cancer risk alleles and their associations with other malignancies.Cooper PRUrology
22219177A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.Tao SCarcinogenesis
26347821Analysis of Prostate Cancer Susceptibility Variants in South African Men: Replicating Associations on Chromosomes 8q24 and 10q11.Fernandez PProstate Cancer
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
21367958Association of prostate cancer risk Loci with disease aggressiveness and prostate cancer-specific mortality.Pomerantz MMCancer Prev Res (Phila)
21390317Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.Lindstrom SPLoS One
19318432Generalizability of associations from prostate cancer genome-wide association studies in multiple populations.Waters KMCancer Epidemiol Biomarkers Prev
21343373Prostate cancer predisposition loci and risk of metastatic disease and prostate cancer recurrence.Ahn JClin Cancer Res
20569440Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer.Harries LWBMC Cancer
19116992Association of reported prostate cancer risk alleles with PSA levels among men without a diagnosis of prostate cancer.Wiklund FProstate
20878950Inherited genetic markers discovered to date are able to identify a significant number of men at considerably elevated risk for prostate cancer.Sun JProstate
20651075Prostate cancer susceptibility variants confer increased risk of disease progression.Cheng ICancer Epidemiol Biomarkers Prev
21541972Functional annotation of risk loci identified through genome-wide association studies for prostate cancer.Lu YProstate
21538423Early onset prostate cancer has a significant genetic component.Lange EMProstate
20667146Prostate cancer genomics: can we distinguish between indolent and fatal disease using genetic markers?Wiklund FGenome Med
20690139Meta-analysis of genome-wide and replication association studies on prostate cancer.Liu HProstate
21468051Polygenic susceptibility to prostate and breast cancer: implications for personalised screening.Pashayan NBr J Cancer
26025378Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans.Amin Al Olama AHum Mol Genet
20039378Estimation of genotype relative risks from pedigree data by retrospective likelihoods.Schaid DJGenet Epidemiol
19866473Association of 17 prostate cancer susceptibility loci with prostate cancer risk in Chinese men.Zheng SLProstate
27070714Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity.Ahmed MBr J Cancer
25837820Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci.Amin Al Olama ACancer Epidemiol Biomarkers Prev
24038036Evaluation of reported prostate cancer risk-associated SNPs from genome-wide association studies of various racial populations in Chinese men.Na RProstate
20585100Genome-wide association studies of cancer.Stadler ZKJ Clin Oncol
18974127Association study of prostate cancer susceptibility variants with risks of invasive ovarian, breast, and colorectal cancer.Song HCancer Res
19767754Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.Gudmundsson JNat Genet
21856995Human polymorphisms at long non-coding RNAs (lncRNAs) and association with prostate cancer risk.Jin GCarcinogenesis
22730461Genetic and functional analyses implicate the NUDT11, HNF1B, and SLC22A3 genes in prostate cancer pathogenesis.Grisanzio CProc Natl Acad Sci U S A
21372204Large-scale exploration of gene-gene interactions in prostate cancer using a multistage genome-wide association study.Ciampa JCancer Res
23593118Genetic susceptibility loci, pesticide exposure and prostate cancer risk.Koutros SPLoS One
24497837Comprehensive functional annotation of 77 prostate cancer risk loci.Hazelett DJPLoS Genet
21959049Association between single nucleotide polymorphisms on chromosome 17q and the risk of prostate cancer in a Chinese population.Zhou CHChin J Cancer
26773531Replication study of 34 common SNPs associated with prostate cancer in the Romanian population.Jinga VJ Cell Mol Med
22198737Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer Genetics (ICPCG).Jin GHum Genet
21071540Validation of genome-wide prostate cancer associations in men of African descent.Chang BLCancer Epidemiol Biomarkers Prev
22459122Interactions between genome-wide significant genetic variants and circulating concentrations of insulin-like growth factor 1, sex hormones, and binding proteins in relation to prostate cancer risk in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium.Tsilidis KKAm J Epidemiol
19104501Prostate cancer genomics: towards a new understanding.Witte JSNat Rev Genet
18794092Association of prostate cancer risk variants with clinicopathologic characteristics of the disease.Xu JClin Cancer Res
19434657Individual and cumulative effect of prostate cancer risk-associated variants on clinicopathologic variables in 5,895 prostate cancer patients.Kader AKProstate
24701578The role of single nucleotide polymorphisms in predicting prostate cancer risk and therapeutic decision making.Van den Broeck TBiomed Res Int
21756274Systematic confirmation study of reported prostate cancer risk-associated single nucleotide polymorphisms in Chinese men.Liu FCancer Sci
19767753Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.Eeles RANat Genet
21769933A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impact.Macinnis RJGenet Epidemiol
20564319Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation.Kim STProstate
22077888Association of prostate cancer risk alleles with unfavourable pathological characteristics in potential candidates for active surveillance.McGuire BBBJU Int
20460480Susceptibility loci associated with prostate cancer progression and mortality.Gallagher DJClin Cancer Res
24740154Genome-wide association scan for variants associated with early-onset prostate cancer.Lange EMPLoS One
22985493Common genetic variants associated with disease from genome-wide association studies are mutually exclusive in prostate cancer and rheumatoid arthritis.Orozco GBJU Int
21295399Polygenic risk score improves prostate cancer risk prediction: results from the Stockholm-1 cohort study.Aly MEur Urol
19366831Analysis of recently identified prostate cancer susceptibility loci in a population-based study: associations with family history and clinical features.Fitzgerald LMClin Cancer Res
19549807Prostate cancer risk associated loci in African Americans.Xu JCancer Epidemiol Biomarkers Prev

P-Value

SNP ID p-value Traits Study
rs49624160.00055alcohol dependence20201924

eQTL of rs4962416 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 rs4962416 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 )
chr10126653596126653637E067-43235
chr10126653725126653787E067-43085
chr10126657241126657291E067-39581
chr10126657312126657352E067-39520
chr10126657474126657579E067-39293
chr10126657619126657682E067-39190
chr10126657941126658047E067-38825
chr10126659322126659375E067-37497
chr10126659422126659762E067-37110
chr10126659833126660298E067-36574
chr10126660504126660564E067-36308
chr10126666330126666469E067-30403
chr10126666509126666582E067-30290
chr10126666719126666894E067-29978
chr10126666995126667130E067-29742
chr10126667670126667710E067-29162
chr10126671882126672288E067-24584
chr10126672294126672428E067-24444
chr10126680803126681362E067-15510
chr10126681366126681604E067-15268
chr10126681683126681933E067-14939
chr10126681939126682051E067-14821
chr10126682104126682187E067-14685
chr10126682202126682264E067-14608
chr10126682309126682391E067-14481
chr10126682434126682493E067-14379
chr10126682528126682607E067-14265
chr10126682667126682916E067-13956
chr10126683285126683351E067-13521
chr10126683583126684012E067-12860
chr10126684069126684123E067-12749
chr10126688033126688781E067-8091
chr10126688820126690221E067-6651
chr10126690230126691330E067-5542
chr10126691489126691688E067-5184
chr10126691958126692049E067-4823
chr10126692175126692351E067-4521
chr10126692373126692433E067-4439
chr10126692439126692728E067-4144
chr10126692864126692949E067-3923
chr10126693092126693150E067-3722
chr10126693235126693420E067-3452
chr10126693487126693564E067-3308
chr10126693751126693829E067-3043
chr10126693985126694112E067-2760
chr10126694157126694222E067-2650
chr10126694329126694409E067-2463
chr10126694516126694715E067-2157
chr10126694737126694837E067-2035
chr10126694948126695176E067-1696
chr10126695238126695373E067-1499
chr10126695417126696506E067-366
chr10126696831126697472E0670
chr10126697751126698783E067879
chr10126698836126698939E0671964
chr10126698955126699373E0672083
chr10126703051126705935E0676179
chr10126706264126706371E0679392
chr10126706402126706610E0679530
chr10126706664126706816E0679792
chr10126707220126707390E06710348
chr10126707436126707527E06710564
chr10126707606126707739E06710734
chr10126707778126707954E06710906
chr10126708070126708306E06711198
chr10126708466126708528E06711594
chr10126708692126708746E06711820
chr10126709028126709298E06712156
chr10126709307126709478E06712435
chr10126710634126710834E06713762
chr10126710905126711130E06714033
chr10126711171126711290E06714299
chr10126711439126711556E06714567
chr10126711569126711687E06714697
chr10126711729126713643E06714857
chr10126713726126713784E06716854
chr10126713898126714541E06717026
chr10126716452126716876E06719580
chr10126716898126716953E06720026
chr10126716968126717455E06720096
chr10126723372126724386E06726500
chr10126724598126724777E06727726
chr10126724871126724965E06727999
chr10126725118126725168E06728246
chr10126725291126725513E06728419
chr10126727136126728378E06730264
chr10126736553126737479E06739681
chr10126737550126737600E06740678
chr10126742956126743011E06746084
chr10126743106126743607E06746234
chr10126743613126743811E06746741
chr10126743838126743925E06746966
chr10126743946126744062E06747074
chr10126744089126744482E06747217
chr10126658871126658965E068-37907
chr10126659072126659177E068-37695
chr10126659322126659375E068-37497
chr10126659422126659762E068-37110
chr10126659833126660298E068-36574
chr10126660504126660564E068-36308
chr10126660713126660786E068-36086
chr10126666330126666469E068-30403
chr10126666509126666582E068-30290
chr10126666719126666894E068-29978
chr10126666995126667130E068-29742
chr10126671718126671861E068-25011
chr10126671882126672288E068-24584
chr10126672294126672428E068-24444
chr10126680803126681362E068-15510
chr10126681366126681604E068-15268
chr10126681683126681933E068-14939
chr10126681939126682051E068-14821
chr10126682104126682187E068-14685
chr10126682202126682264E068-14608
chr10126682309126682391E068-14481
chr10126682434126682493E068-14379
chr10126682528126682607E068-14265
chr10126682667126682916E068-13956
chr10126682928126682982E068-13890
chr10126683583126684012E068-12860
chr10126684069126684123E068-12749
chr10126684204126684391E068-12481
chr10126687454126687514E068-9358
chr10126687571126687668E068-9204
chr10126687689126687835E068-9037
chr10126688033126688781E068-8091
chr10126688820126690221E068-6651
chr10126690230126691330E068-5542
chr10126692439126692728E068-4144
chr10126692864126692949E068-3923
chr10126693092126693150E068-3722
chr10126693235126693420E068-3452
chr10126693487126693564E068-3308
chr10126693751126693829E068-3043
chr10126693985126694112E068-2760
chr10126694114126694154E068-2718
chr10126694157126694222E068-2650
chr10126694329126694409E068-2463
chr10126694516126694715E068-2157
chr10126694737126694837E068-2035
chr10126694948126695176E068-1696
chr10126695238126695373E068-1499
chr10126695417126696506E068-366
chr10126697751126698783E068879
chr10126698836126698939E0681964
chr10126698955126699373E0682083
chr10126703051126705935E0686179
chr10126706264126706371E0689392
chr10126706402126706610E0689530
chr10126706664126706816E0689792
chr10126707220126707390E06810348
chr10126707436126707527E06810564
chr10126707606126707739E06810734
chr10126707778126707954E06810906
chr10126708070126708306E06811198
chr10126710634126710834E06813762
chr10126710905126711130E06814033
chr10126711171126711290E06814299
chr10126711439126711556E06814567
chr10126711569126711687E06814697
chr10126711729126713643E06814857
chr10126718719126718799E06821847
chr10126718843126718920E06821971
chr10126724598126724777E06827726
chr10126724871126724965E06827999
chr10126725118126725168E06828246
chr10126725291126725513E06828419
chr10126725731126726318E06828859
chr10126726680126726736E06829808
chr10126726900126726992E06830028
chr10126727041126727114E06830169
chr10126727136126728378E06830264
chr10126730694126730994E06833822
chr10126732473126732668E06835601
chr10126732725126733157E06835853
chr10126733235126733322E06836363
chr10126733419126733469E06836547
chr10126733547126733854E06836675
chr10126736553126737479E06839681
chr10126737550126737600E06840678
chr10126737666126738316E06840794
chr10126738482126738543E06841610
chr10126738546126738608E06841674
chr10126738662126738712E06841790
chr10126738872126738950E06842000
chr10126739012126739291E06842140
chr10126740436126740756E06843564
chr10126740977126741059E06844105
chr10126741067126741207E06844195
chr10126741223126741379E06844351
chr10126741380126741894E06844508
chr10126742010126742142E06845138
chr10126742193126742367E06845321
chr10126742387126742471E06845515
chr10126742718126742814E06845846
chr10126742915126742955E06846043
chr10126742956126743011E06846084
chr10126743106126743607E06846234
chr10126743613126743811E06846741
chr10126743838126743925E06846966
chr10126743946126744062E06847074
chr10126744089126744482E06847217
chr10126647616126647737E069-49135
chr10126647753126647805E069-49067
chr10126652516126653133E069-43739
chr10126653596126653637E069-43235
chr10126653725126653787E069-43085
chr10126657474126657579E069-39293
chr10126657619126657682E069-39190
chr10126659072126659177E069-37695
chr10126659322126659375E069-37497
chr10126659422126659762E069-37110
chr10126659833126660298E069-36574
chr10126660504126660564E069-36308
chr10126660713126660786E069-36086
chr10126666330126666469E069-30403
chr10126666509126666582E069-30290
chr10126666719126666894E069-29978
chr10126666995126667130E069-29742
chr10126671882126672288E069-24584
chr10126672294126672428E069-24444
chr10126680803126681362E069-15510
chr10126681366126681604E069-15268
chr10126681683126681933E069-14939
chr10126681939126682051E069-14821
chr10126682104126682187E069-14685
chr10126682202126682264E069-14608
chr10126682309126682391E069-14481
chr10126682434126682493E069-14379
chr10126682528126682607E069-14265
chr10126682667126682916E069-13956
chr10126682928126682982E069-13890
chr10126683100126683200E069-13672
chr10126683285126683351E069-13521
chr10126683583126684012E069-12860
chr10126684069126684123E069-12749
chr10126684204126684391E069-12481
chr10126684403126684605E069-12267
chr10126687454126687514E069-9358
chr10126687571126687668E069-9204
chr10126687689126687835E069-9037
chr10126688033126688781E069-8091
chr10126688820126690221E069-6651
chr10126690230126691330E069-5542
chr10126691489126691688E069-5184
chr10126691958126692049E069-4823
chr10126692175126692351E069-4521
chr10126692373126692433E069-4439
chr10126692439126692728E069-4144
chr10126692864126692949E069-3923
chr10126693092126693150E069-3722
chr10126694737126694837E069-2035
chr10126694948126695176E069-1696
chr10126695238126695373E069-1499
chr10126695417126696506E069-366
chr10126696831126697472E0690
chr10126697539126697739E069667
chr10126697751126698783E069879
chr10126698836126698939E0691964
chr10126698955126699373E0692083
chr10126702580126702735E0695708
chr10126702755126702904E0695883
chr10126703051126705935E0696179
chr10126706264126706371E0699392
chr10126706402126706610E0699530
chr10126706664126706816E0699792
chr10126707220126707390E06910348
chr10126707436126707527E06910564
chr10126707606126707739E06910734
chr10126707778126707954E06910906
chr10126708070126708306E06911198
chr10126708466126708528E06911594
chr10126708692126708746E06911820
chr10126709028126709298E06912156
chr10126709731126709864E06912859
chr10126710634126710834E06913762
chr10126710905126711130E06914033
chr10126711171126711290E06914299
chr10126711439126711556E06914567
chr10126711569126711687E06914697
chr10126713726126713784E06916854
chr10126716452126716876E06919580
chr10126716898126716953E06920026
chr10126716968126717455E06920096
chr10126723372126724386E06926500
chr10126724598126724777E06927726
chr10126724871126724965E06927999
chr10126725118126725168E06928246
chr10126725291126725513E06928419
chr10126725731126726318E06928859
chr10126726680126726736E06929808
chr10126726900126726992E06930028
chr10126727041126727114E06930169
chr10126727136126728378E06930264
chr10126733235126733322E06936363
chr10126735287126735413E06938415
chr10126735510126735554E06938638
chr10126735712126735766E06938840
chr10126736052126736175E06939180
chr10126736553126737479E06939681
chr10126737550126737600E06940678
chr10126740436126740756E06943564
chr10126740977126741059E06944105
chr10126741067126741207E06944195
chr10126741223126741379E06944351
chr10126741380126741894E06944508
chr10126742010126742142E06945138
chr10126742193126742367E06945321
chr10126742387126742471E06945515
chr10126742718126742814E06945846
chr10126742915126742955E06946043
chr10126742956126743011E06946084
chr10126743106126743607E06946234
chr10126743613126743811E06946741
chr10126743838126743925E06946966
chr10126743946126744062E06947074
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