rs12675345

Homo sapiens
C>A
CPQ : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0391 (11681/29872,GnomAD)
A=0372 (10855/29118,TOPMED)
A=0333 (1666/5008,1000G)
C==0471 (1815/3854,ALSPAC)
C==0473 (1753/3708,TWINSUK)
chr8:96673363 (GRCh38.p7) (8q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
101 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.96673363C>A
GRCh37.p13 chr 8NC_000008.10:g.97685591C>A

Gene: CPQ, carboxypeptidase Q(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CPQ transcriptNM_016134.3:c.N/AIntron Variant
CPQ transcript variant X1XM_017012953.1:c.N/AIntron Variant
CPQ transcript variant X2XM_017012954.1:c.N/AIntron Variant
CPQ transcript variant X5XM_017012955.1:c.N/AIntron Variant
CPQ transcript variant X3XR_001745451.1:n.N/AIntron Variant
CPQ transcript variant X4XR_001745452.1:n.N/AIntron Variant
CPQ transcript variant X6XR_928286.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.882A=0.118
1000GenomesAmericanSub694C=0.540A=0.460
1000GenomesEast AsianSub1008C=0.705A=0.295
1000GenomesEuropeSub1006C=0.496A=0.504
1000GenomesGlobalStudy-wide5008C=0.667A=0.333
1000GenomesSouth AsianSub978C=0.610A=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.471A=0.529
The Genome Aggregation DatabaseAfricanSub8704C=0.824A=0.176
The Genome Aggregation DatabaseAmericanSub836C=0.570A=0.430
The Genome Aggregation DatabaseEast AsianSub1600C=0.699A=0.301
The Genome Aggregation DatabaseEuropeSub18430C=0.503A=0.496
The Genome Aggregation DatabaseGlobalStudy-wide29872C=0.609A=0.391
The Genome Aggregation DatabaseOtherSub302C=0.480A=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.627A=0.372
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.473A=0.527
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs126753450.000318alcohol dependence20201924

eQTL of rs12675345 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 rs12675345 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 )
chr89765933697659670E067-25921
chr89766034697660711E067-24880
chr89766086297661121E067-24470
chr89766287397662913E067-22678
chr89767509697675222E067-10369
chr89767535997675757E067-9834
chr89767595997676071E067-9520
chr89767649397676589E067-9002
chr89767666197676754E067-8837
chr89767692497677079E067-8512
chr89767710897677179E067-8412
chr89771820297718336E06732611
chr89771857097718614E06732979
chr89765933697659670E068-25921
chr89765970897659866E068-25725
chr89766189897662063E068-23528
chr89766208997662172E068-23419
chr89766274497662871E068-22720
chr89766287397662913E068-22678
chr89767509697675222E068-10369
chr89767535997675757E068-9834
chr89767595997676071E068-9520
chr89771820297718336E06832611
chr89771857097718614E06832979
chr89765933697659670E069-25921
chr89765970897659866E069-25725
chr89766006697660274E069-25317
chr89766034697660711E069-24880
chr89766086297661121E069-24470
chr89766122397661304E069-24287
chr89766189897662063E069-23528
chr89767509697675222E069-10369
chr89767535997675757E069-9834
chr89767595997676071E069-9520
chr89767649397676589E069-9002
chr89767666197676754E069-8837
chr89768360197683837E069-1754
chr89771384297713997E06928251
chr89771710997717384E06931518
chr89771760897717944E06932017
chr89771812197718178E06932530
chr89771820297718336E06932611
chr89773342697733554E06947835
chr89773399197734105E06948400
chr89765933697659670E071-25921
chr89766034697660711E071-24880
chr89766086297661121E071-24470
chr89766122397661304E071-24287
chr89766189897662063E071-23528
chr89766208997662172E071-23419
chr89766274497662871E071-22720
chr89766287397662913E071-22678
chr89767509697675222E071-10369
chr89767535997675757E071-9834
chr89767595997676071E071-9520
chr89767666197676754E071-8837
chr89767692497677079E071-8512
chr89767710897677179E071-8412
chr89768332197683448E071-2143
chr89768345097683501E071-2090
chr89768360197683837E071-1754
chr89771760897717944E07132017
chr89771812197718178E07132530
chr89771820297718336E07132611
chr89771857097718614E07132979
chr89773342697733554E07147835
chr89765933697659670E072-25921
chr89766034697660711E072-24880
chr89766086297661121E072-24470
chr89766122397661304E072-24287
chr89766287397662913E072-22678
chr89767509697675222E072-10369
chr89767535997675757E072-9834
chr89767595997676071E072-9520
chr89771820297718336E07232611
chr89771857097718614E07232979
chr89766274497662871E073-22720
chr89767509697675222E073-10369
chr89765933697659670E074-25921
chr89765970897659866E074-25725
chr89766006697660274E074-25317
chr89766034697660711E074-24880
chr89766086297661121E074-24470
chr89766122397661304E074-24287
chr89766189897662063E074-23528
chr89766208997662172E074-23419
chr89766274497662871E074-22720
chr89766287397662913E074-22678
chr89767509697675222E074-10369
chr89767535997675757E074-9834
chr89767595997676071E074-9520
chr89767649397676589E074-9002
chr89767666197676754E074-8837
chr89767692497677079E074-8512
chr89767710897677179E074-8412
chr89768640497686473E074813
chr89768671297686765E0741121
chr89771260197712645E07427010
chr89771274097712800E07427149
chr89771820297718336E07432611
chr89771857097718614E07432979







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr89765635697659308E067-26283
chr89765635697659308E068-26283
chr89765635697659308E069-26283
chr89765635697659308E070-26283
chr89765635697659308E071-26283
chr89768510997685221E072-370
chr89765635697659308E073-26283
chr89765635697659308E082-26283