rs4766453

Homo sapiens
C>T
CUX2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0271 (8129/29896,GnomAD)
T=0279 (8124/29118,TOPMED)
T=0350 (1751/5008,1000G)
T=0245 (944/3854,ALSPAC)
T=0230 (853/3708,TWINSUK)
chr12:111254320 (GRCh38.p7) (12q24.11)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.111254320C>T
GRCh37.p13 chr 12NC_000012.11:g.111692124C>T
CUX2 RefSeqGeneNG_023039.1:g.225297C>T

Gene: CUX2, cut like homeobox 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CUX2 transcriptNM_015267.3:c.N/AIntron Variant
CUX2 transcript variant X1XM_011538061.2:c.N/AIntron Variant
CUX2 transcript variant X2XM_011538063.2:c.N/AIntron Variant
CUX2 transcript variant X6XM_011538069.2:c.N/AIntron Variant
CUX2 transcript variant X3XM_011538070.2:c.N/AIntron Variant
CUX2 transcript variant X4XM_017019080.1:c.N/AIntron Variant
CUX2 transcript variant X5XM_017019081.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.667T=0.333
1000GenomesAmericanSub694C=0.800T=0.200
1000GenomesEast AsianSub1008C=0.531T=0.469
1000GenomesEuropeSub1006C=0.757T=0.243
1000GenomesGlobalStudy-wide5008C=0.650T=0.350
1000GenomesSouth AsianSub978C=0.530T=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.755T=0.245
The Genome Aggregation DatabaseAfricanSub8710C=0.700T=0.300
The Genome Aggregation DatabaseAmericanSub836C=0.730T=0.270
The Genome Aggregation DatabaseEast AsianSub1610C=0.557T=0.443
The Genome Aggregation DatabaseEuropeSub18438C=0.754T=0.245
The Genome Aggregation DatabaseGlobalStudy-wide29896C=0.728T=0.271
The Genome Aggregation DatabaseOtherSub302C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.721T=0.279
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.770T=0.230
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs47664530.00000139alcohol dependence24277619
rs47664530.000029alcohol consumption (maxi-drinks)24277619

eQTL of rs4766453 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 rs4766453 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 )
chr12111642265111642319E070-49805
chr12111642395111642445E070-49679
chr12111642595111642767E070-49357
chr12111643046111643096E070-49028
chr12111643126111643206E070-48918
chr12111643262111643302E070-48822
chr12111646465111646588E070-45536
chr12111646871111646932E070-45192
chr12111646936111646986E070-45138
chr12111649523111649595E070-42529
chr12111649764111650014E070-42110
chr12111650049111650228E070-41896
chr12111650759111650975E070-41149
chr12111651074111651453E070-40671
chr12111651495111651605E070-40519
chr12111652009111652078E070-40046
chr12111652253111652574E070-39550
chr12111652881111652931E070-39193
chr12111653176111653226E070-38898
chr12111653623111653683E070-38441
chr12111653747111653983E070-38141
chr12111658776111659972E070-32152
chr12111660164111660239E070-31885
chr12111660482111660618E070-31506
chr12111660791111660854E070-31270
chr12111661282111661347E070-30777
chr12111661507111661557E070-30567
chr12111661821111661910E070-30214
chr12111662999111663110E070-29014
chr12111686006111686866E070-5258
chr12111686912111687168E070-4956
chr12111688225111688288E070-3836
chr12111688443111688617E070-3507
chr12111688838111689461E070-2663
chr12111690303111690384E070-1740
chr12111698802111698852E0706678
chr12111698871111698961E0706747
chr12111699044111699102E0706920
chr12111705045111705273E07012921
chr12111705319111705509E07013195
chr12111705653111705723E07013529
chr12111706059111706109E07013935
chr12111706426111706490E07014302
chr12111706683111706841E07014559
chr12111706939111707027E07014815
chr12111707316111707387E07015192
chr12111707605111707952E07015481
chr12111708027111708188E07015903
chr12111710528111710721E07018404
chr12111710733111710922E07018609
chr12111712435111713036E07020311
chr12111713144111713526E07021020
chr12111721954111722052E07029830
chr12111722405111722730E07030281
chr12111722807111722847E07030683
chr12111722931111723004E07030807
chr12111723096111723316E07030972
chr12111723320111723540E07031196
chr12111723618111723668E07031494
chr12111723759111723809E07031635
chr12111724092111724172E07031968
chr12111725969111726023E07033845
chr12111726280111726320E07034156
chr12111726684111726724E07034560
chr12111726784111726841E07034660
chr12111727370111727430E07035246
chr12111727969111728057E07035845
chr12111735937111736160E07043813
chr12111736170111736367E07044046
chr12111736437111737139E07044313
chr12111712435111713036E07320311
chr12111713144111713526E07321020
chr12111713568111713630E07321444
chr12111713742111713825E07321618
chr12111642265111642319E081-49805
chr12111642395111642445E081-49679
chr12111642595111642767E081-49357
chr12111643046111643096E081-49028
chr12111643126111643206E081-48918
chr12111649523111649595E081-42529
chr12111649764111650014E081-42110
chr12111650049111650228E081-41896
chr12111650759111650975E081-41149
chr12111651074111651453E081-40671
chr12111651495111651605E081-40519
chr12111652009111652078E081-40046
chr12111652253111652574E081-39550
chr12111652881111652931E081-39193
chr12111653176111653226E081-38898
chr12111653623111653683E081-38441
chr12111653747111653983E081-38141
chr12111654092111654132E081-37992
chr12111654275111654474E081-37650
chr12111654491111654531E081-37593
chr12111654589111654629E081-37495
chr12111654640111654690E081-37434
chr12111654962111655061E081-37063
chr12111655188111655238E081-36886
chr12111655280111655330E081-36794
chr12111658776111659972E081-32152
chr12111660164111660239E081-31885
chr12111660482111660618E081-31506
chr12111660791111660854E081-31270
chr12111661282111661347E081-30777
chr12111661507111661557E081-30567
chr12111661821111661910E081-30214
chr12111685072111685332E081-6792
chr12111686006111686866E081-5258
chr12111686912111687168E081-4956
chr12111687663111687713E081-4411
chr12111688225111688288E081-3836
chr12111688443111688617E081-3507
chr12111688838111689461E081-2663
chr12111690303111690384E081-1740
chr12111694444111694494E0812320
chr12111694585111694635E0812461
chr12111694684111695073E0812560
chr12111695643111695806E0813519
chr12111696031111696085E0813907
chr12111696393111696471E0814269
chr12111698520111698704E0816396
chr12111698802111698852E0816678
chr12111698871111698961E0816747
chr12111699044111699102E0816920
chr12111706939111707027E08114815
chr12111707316111707387E08115192
chr12111707605111707952E08115481
chr12111708027111708188E08115903
chr12111711009111711088E08118885
chr12111712081111712154E08119957
chr12111712435111713036E08120311
chr12111713144111713526E08121020
chr12111713568111713630E08121444
chr12111713742111713825E08121618
chr12111714061111714242E08121937
chr12111714362111714402E08122238
chr12111715203111715348E08123079
chr12111715401111715617E08123277
chr12111722807111722847E08130683
chr12111722931111723004E08130807
chr12111723096111723316E08130972
chr12111723320111723540E08131196
chr12111723618111723668E08131494
chr12111723759111723809E08131635
chr12111724092111724172E08131968
chr12111725969111726023E08133845
chr12111733701111733812E08141577
chr12111734104111734154E08141980
chr12111734195111734245E08142071
chr12111736170111736367E08144046
chr12111736437111737139E08144313
chr12111649523111649595E082-42529
chr12111649764111650014E082-42110
chr12111650049111650228E082-41896
chr12111650759111650975E082-41149
chr12111651074111651453E082-40671
chr12111651495111651605E082-40519
chr12111652009111652078E082-40046
chr12111652253111652574E082-39550
chr12111652881111652931E082-39193
chr12111653176111653226E082-38898
chr12111653623111653683E082-38441
chr12111653747111653983E082-38141
chr12111654589111654629E082-37495
chr12111654640111654690E082-37434
chr12111654962111655061E082-37063
chr12111655188111655238E082-36886
chr12111655280111655330E082-36794
chr12111686006111686866E082-5258
chr12111686912111687168E082-4956
chr12111688225111688288E082-3836
chr12111688443111688617E082-3507
chr12111688838111689461E082-2663
chr12111694444111694494E0822320
chr12111694585111694635E0822461
chr12111694684111695073E0822560
chr12111695643111695806E0823519
chr12111696031111696085E0823907
chr12111707316111707387E08215192
chr12111708027111708188E08215903
chr12111712081111712154E08219957
chr12111712435111713036E08220311
chr12111713144111713526E08221020
chr12111713568111713630E08221444
chr12111713742111713825E08221618
chr12111722405111722730E08230281
chr12111722807111722847E08230683
chr12111722931111723004E08230807
chr12111723096111723316E08230972
chr12111723320111723540E08231196
chr12111723618111723668E08231494
chr12111723759111723809E08231635
chr12111724092111724172E08231968
chr12111725969111726023E08233845
chr12111726280111726320E08234156
chr12111726684111726724E08234560
chr12111726784111726841E08234660