rs12679735

Homo sapiens
C>T
ZNF623 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0260 (7811/29958,GnomAD)
T=0296 (8620/29118,TOPMED)
T=0312 (1562/5008,1000G)
T=0237 (913/3854,ALSPAC)
T=0229 (850/3708,TWINSUK)
chr8:143651635 (GRCh38.p7) (8q24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
52 Enhancers around
48 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.143651635C>T
GRCh37.p13 chr 8NC_000008.10:g.144733805C>T
GRCh38.p7 chr 8 alt locus HSCHR8_3_CTG7NT_187571.1:g.127104C>T

Gene: ZNF623, zinc finger protein 623(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF623 transcript variant 1NM_014789.3:c.N/A3 Prime UTR Variant
ZNF623 transcript variant 2NM_001082480.2:c.N/A3 Prime UTR Variant
ZNF623 transcript variant 3NM_001261843.1:c.N/A3 Prime UTR Variant
ZNF623 transcript variant X1XM_006716708.3:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.632T=0.368
1000GenomesAmericanSub694C=0.680T=0.320
1000GenomesEast AsianSub1008C=0.635T=0.365
1000GenomesEuropeSub1006C=0.773T=0.227
1000GenomesGlobalStudy-wide5008C=0.688T=0.312
1000GenomesSouth AsianSub978C=0.730T=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.763T=0.237
The Genome Aggregation DatabaseAfricanSub8720C=0.669T=0.331
The Genome Aggregation DatabaseAmericanSub838C=0.750T=0.250
The Genome Aggregation DatabaseEast AsianSub1620C=0.643T=0.357
The Genome Aggregation DatabaseEuropeSub18478C=0.781T=0.218
The Genome Aggregation DatabaseGlobalStudy-wide29958C=0.739T=0.260
The Genome Aggregation DatabaseOtherSub302C=0.680T=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.704T=0.296
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.771T=0.229
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs126797353.65E-05alcohol consumption23743675

eQTL of rs12679735 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr8:144733805ZNF623ENSG00000183309.7C>T1.6066e-1315622Cerebellum
Chr8:144733805ZNF623ENSG00000183309.7C>T2.8968e-1115622Cerebellar_Hemisphere

meQTL of rs12679735 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 )
chr8144689538144689638E067-44167
chr8144689652144690255E067-43550
chr8144767670144767844E06733865
chr8144767983144768191E06734178
chr8144684617144685072E068-48733
chr8144689652144690255E068-43550
chr8144767670144767844E06833865
chr8144767983144768191E06834178
chr8144689652144690255E069-43550
chr8144700856144701018E069-32787
chr8144716509144716636E069-17169
chr8144716645144716689E069-17116
chr8144716706144716892E069-16913
chr8144717121144717181E069-16624
chr8144767670144767844E06933865
chr8144767983144768191E06934178
chr8144684150144684541E070-49264
chr8144698028144698127E070-35678
chr8144767670144767844E07033865
chr8144767983144768191E07034178
chr8144684617144685072E071-48733
chr8144700856144701018E071-32787
chr8144767670144767844E07133865
chr8144767983144768191E07134178
chr8144689538144689638E072-44167
chr8144689652144690255E072-43550
chr8144714745144714877E072-18928
chr8144714880144715152E072-18653
chr8144724882144725056E072-8749
chr8144725153144725213E072-8592
chr8144725443144725507E072-8298
chr8144689373144689463E073-44342
chr8144689538144689638E073-44167
chr8144689652144690255E073-43550
chr8144698028144698127E073-35678
chr8144767670144767844E07333865
chr8144767670144767844E07433865
chr8144767983144768191E07434178
chr8144689538144689638E081-44167
chr8144689652144690255E081-43550
chr8144700856144701018E081-32787
chr8144716706144716892E081-16913
chr8144717121144717181E081-16624
chr8144689538144689638E082-44167
chr8144689652144690255E082-43550
chr8144697262144697429E082-36376
chr8144697490144697622E082-36183
chr8144697789144697994E082-35811
chr8144698028144698127E082-35678
chr8144717121144717181E082-16624
chr8144767670144767844E08233865
chr8144767983144768191E08234178










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr8144690294144692490E067-41315
chr8144698148144700624E067-33181
chr8144717327144719601E067-14204
chr8144766170144766373E06732365
chr8144766379144767467E06732574
chr8144690294144692490E068-41315
chr8144698148144700624E068-33181
chr8144717327144719601E068-14204
chr8144766170144766373E06832365
chr8144766379144767467E06832574
chr8144690294144692490E069-41315
chr8144698148144700624E069-33181
chr8144717327144719601E069-14204
chr8144766170144766373E06932365
chr8144766379144767467E06932574
chr8144690294144692490E070-41315
chr8144698148144700624E070-33181
chr8144717327144719601E070-14204
chr8144766170144766373E07032365
chr8144766379144767467E07032574
chr8144690294144692490E071-41315
chr8144698148144700624E071-33181
chr8144717327144719601E071-14204
chr8144766170144766373E07132365
chr8144766379144767467E07132574
chr8144690294144692490E072-41315
chr8144698148144700624E072-33181
chr8144717327144719601E072-14204
chr8144765818144765928E07232013
chr8144766170144766373E07232365
chr8144766379144767467E07232574
chr8144690294144692490E073-41315
chr8144698148144700624E073-33181
chr8144717327144719601E073-14204
chr8144766170144766373E07332365
chr8144766379144767467E07332574
chr8144690294144692490E074-41315
chr8144698148144700624E074-33181
chr8144717327144719601E074-14204
chr8144766170144766373E07432365
chr8144766379144767467E07432574
chr8144698148144700624E081-33181
chr8144766379144767467E08132574
chr8144690294144692490E082-41315
chr8144698148144700624E082-33181
chr8144717327144719601E082-14204
chr8144766170144766373E08232365
chr8144766379144767467E08232574