rs17678713

Homo sapiens
G>A
KAT2B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0092 (2775/29940,GnomAD)
A=0095 (2792/29118,TOPMED)
A=0072 (361/5008,1000G)
A=0130 (501/3854,ALSPAC)
A=0144 (534/3708,TWINSUK)
chr3:20151277 (GRCh38.p7) (3p24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
71 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.20151277G>A
GRCh37.p13 chr 3NC_000003.11:g.20192769G>A

Gene: KAT2B, K(lysine) acetyltransferase 2B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KAT2B transcriptNM_003884.4:c.N/AIntron Variant
KAT2B transcript variant X1XM_005265528.4:c.N/AIntron Variant
KAT2B transcript variant X2XM_017007423.1:c.N/AIntron Variant
KAT2B transcript variant X3XM_017007424.1:c.N/AIntron Variant
KAT2B transcript variant X4XR_001740351.1:n.N/AIntron Variant
KAT2B transcript variant X5XR_245162.4:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.992A=0.008
1000GenomesAmericanSub694G=0.820A=0.180
1000GenomesEast AsianSub1008G=0.991A=0.009
1000GenomesEuropeSub1006G=0.865A=0.135
1000GenomesGlobalStudy-wide5008G=0.928A=0.072
1000GenomesSouth AsianSub978G=0.910A=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.870A=0.130
The Genome Aggregation DatabaseAfricanSub8736G=0.975A=0.025
The Genome Aggregation DatabaseAmericanSub838G=0.820A=0.180
The Genome Aggregation DatabaseEast AsianSub1620G=0.994A=0.006
The Genome Aggregation DatabaseEuropeSub18444G=0.872A=0.127
The Genome Aggregation DatabaseGlobalStudy-wide29940G=0.907A=0.092
The Genome Aggregation DatabaseOtherSub302G=0.870A=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.904A=0.095
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.856A=0.144
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
rs176787130.000581alcohol dependence20201924

eQTL of rs17678713 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 rs17678713 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 )
chr32014523120145281E067-47488
chr32014538020145604E067-47165
chr32014566520146257E067-46512
chr32015921620159296E067-33473
chr32018382520184103E067-8666
chr32018413620184279E067-8490
chr32014523120145281E068-47488
chr32014538020145604E068-47165
chr32014566520146257E068-46512
chr32015921620159296E068-33473
chr32018248120182576E068-10193
chr32018264920182749E068-10020
chr32018293120183026E068-9743
chr32018382520184103E068-8666
chr32018413620184279E068-8490
chr32014523120145281E069-47488
chr32014538020145604E069-47165
chr32014566520146257E069-46512
chr32015921620159296E069-33473
chr32017167820171780E069-20989
chr32017179220171908E069-20861
chr32018293120183026E069-9743
chr32018335520183663E069-9106
chr32018382520184103E069-8666
chr32018413620184279E069-8490
chr32014566520146257E070-46512
chr32018264920182749E070-10020
chr32018293120183026E070-9743
chr32018335520183663E070-9106
chr32018794920188113E070-4656
chr32019011020190237E070-2532
chr32014523120145281E071-47488
chr32014538020145604E071-47165
chr32014566520146257E071-46512
chr32015921620159296E071-33473
chr32018248120182576E071-10193
chr32018264920182749E071-10020
chr32018293120183026E071-9743
chr32018335520183663E071-9106
chr32018382520184103E071-8666
chr32018413620184279E071-8490
chr32022924620229311E07136477
chr32022938220229624E07136613
chr32014523120145281E072-47488
chr32014538020145604E072-47165
chr32014566520146257E072-46512
chr32015921620159296E072-33473
chr32018293120183026E072-9743
chr32018382520184103E072-8666
chr32018413620184279E072-8490
chr32022924620229311E07236477
chr32014538020145604E073-47165
chr32015921620159296E073-33473
chr32018248120182576E073-10193
chr32018264920182749E073-10020
chr32018293120183026E073-9743
chr32018335520183663E073-9106
chr32014538020145604E074-47165
chr32014566520146257E074-46512
chr32015921620159296E074-33473
chr32017150620171569E074-21200
chr32017167820171780E074-20989
chr32017179220171908E074-20861
chr32018248120182576E074-10193
chr32018264920182749E074-10020
chr32018293120183026E074-9743
chr32018335520183663E074-9106
chr32018382520184103E074-8666
chr32018413620184279E074-8490
chr32022924620229311E07436477
chr32014566520146257E082-46512









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr32022679020229151E06734021
chr32022679020229151E06834021
chr32022679020229151E06934021
chr32022614420226271E07033375
chr32022630420226354E07033535
chr32022664320226734E07033874
chr32022679020229151E07034021
chr32022679020229151E07134021
chr32022679020229151E07234021
chr32022679020229151E07334021
chr32022679020229151E07434021
chr32022679020229151E08134021
chr32022614420226271E08233375
chr32022630420226354E08233535
chr32022664320226734E08233874
chr32022679020229151E08234021