rs6761224

Homo sapiens
T>C
ZAK : Intron Variant
MLK7-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0028 (847/29998,GnomAD)
C=0047 (1380/29118,TOPMED)
C=0034 (170/5008,1000G)
C=0001 (2/3854,ALSPAC)
C=0000 (1/3708,TWINSUK)
chr2:173261232 (GRCh38.p7) (2q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
49 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.173261232T>C
GRCh37.p13 chr 2NC_000002.11:g.174125960T>C
MAP3K20 RefSeqGeneNG_029373.1:g.190396T>C

Gene: ZAK, sterile alpha motif and leucine zipper containing kinase AZK(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MAP3K20 transcript variant 1NM_016653.2:c.N/AIntron Variant
MAP3K20 transcript variant 2NM_133646.2:c.N/AGenic Downstream Transcript Variant
MAP3K20 transcript variant X1XM_005246640.2:c.N/AIntron Variant
MAP3K20 transcript variant X2XM_017004323.1:c.N/AGenic Downstream Transcript Variant
MAP3K20 transcript variant X3XM_017004324.1:c.N/AGenic Downstream Transcript Variant

Gene: MLK7-AS1, MLK7 antisense RNA 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MAP3K20-AS1 transcriptNR_033882.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.874C=0.126
1000GenomesAmericanSub694T=1.000C=0.000
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.999C=0.001
1000GenomesGlobalStudy-wide5008T=0.966C=0.034
1000GenomesSouth AsianSub978T=1.000C=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.999C=0.001
The Genome Aggregation DatabaseAfricanSub8726T=0.904C=0.096
The Genome Aggregation DatabaseAmericanSub838T=1.000C=0.000
The Genome Aggregation DatabaseEast AsianSub1622T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18510T=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29998T=0.971C=0.028
The Genome Aggregation DatabaseOtherSub302T=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.952C=0.047
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=1.000C=0.000
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
rs67612240.000699alcohol dependence20201924

eQTL of rs6761224 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 rs6761224 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 )
chr2174172005174172502E06746045
chr2174083065174083736E068-42224
chr2174093879174093933E068-32027
chr2174093945174094045E068-31915
chr2174094287174094344E068-31616
chr2174095788174096496E068-29464
chr2174114907174115524E068-10436
chr2174171350174171410E06845390
chr2174171640174171753E06845680
chr2174171640174171753E06945680
chr2174078705174079306E070-46654
chr2174083065174083736E070-42224
chr2174085874174086150E070-39810
chr2174092081174092323E070-33637
chr2174093945174094045E070-31915
chr2174094287174094344E070-31616
chr2174095788174096496E070-29464
chr2174111755174111805E070-14155
chr2174112017174112067E070-13893
chr2174113197174113247E070-12713
chr2174113286174113386E070-12574
chr2174114907174115524E070-10436
chr2174115714174115780E070-10180
chr2174116078174116128E070-9832
chr2174116985174117117E070-8843
chr2174117344174117546E070-8414
chr2174119397174119718E070-6242
chr2174130681174130750E0704721
chr2174137685174137971E07011725
chr2174170793174170893E07044833
chr2174170954174171026E07044994
chr2174171350174171410E07045390
chr2174171640174171753E07045680
chr2174137685174137971E07111725
chr2174092081174092323E072-33637
chr2174092081174092323E074-33637
chr2174081927174082118E081-43842
chr2174082226174082417E081-43543
chr2174083065174083736E081-42224
chr2174113197174113247E081-12713
chr2174113286174113386E081-12574
chr2174114907174115524E081-10436
chr2174115714174115780E081-10180
chr2174083065174083736E082-42224
chr2174114907174115524E082-10436
chr2174115714174115780E082-10180
chr2174116078174116128E082-9832
chr2174116985174117117E082-8843
chr2174117344174117546E082-8414