rs2898086

Homo sapiens
T>C
KANSL2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0036 (1097/29988,GnomAD)
C=0048 (1405/29118,TOPMED)
C=0027 (137/5008,1000G)
C=0021 (82/3854,ALSPAC)
C=0024 (90/3708,TWINSUK)
chr12:48675853 (GRCh38.p7) (12q13.11)
AD
GWASdb2
1   publication(s)
See rs on genome
124 Enhancers around
57 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.48675853T>C
GRCh37.p13 chr 12NC_000012.11:g.49069636T>C

Gene: KANSL2, KAT8 regulatory NSL complex subunit 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KANSL2 transcriptNM_017822.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.933C=0.067
1000GenomesAmericanSub694T=0.990C=0.010
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.965C=0.035
1000GenomesGlobalStudy-wide5008T=0.973C=0.027
1000GenomesSouth AsianSub978T=0.990C=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.979C=0.021
The Genome Aggregation DatabaseAfricanSub8722T=0.931C=0.069
The Genome Aggregation DatabaseAmericanSub838T=0.980C=0.020
The Genome Aggregation DatabaseEast AsianSub1620T=0.999C=0.001
The Genome Aggregation DatabaseEuropeSub18506T=0.974C=0.025
The Genome Aggregation DatabaseGlobalStudy-wide29988T=0.963C=0.036
The Genome Aggregation DatabaseOtherSub302T=0.970C=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.951C=0.048
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.976C=0.024
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
rs28980860.000134alcohol dependence20201924

eQTL of rs2898086 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 rs2898086 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 )
chr124907263249072783E0672996
chr124907279549072924E0673159
chr124907322449073379E0673588
chr124907343949073502E0673803
chr124907353449073617E0673898
chr124907372449073844E0674088
chr124907388049073934E0674244
chr124907401049074163E0674374
chr124907428149074321E0674645
chr124910761449107693E06737978
chr124910774049107825E06738104
chr124910819549108258E06738559
chr124910843049108484E06738794
chr124910860049108679E06738964
chr124907111449071290E0681478
chr124907160349071855E0681967
chr124907189349071976E0682257
chr124907197949072101E0682343
chr124907227349072326E0682637
chr124907233149072381E0682695
chr124907246249072600E0682826
chr124907343949073502E0683803
chr124907353449073617E0683898
chr124907372449073844E0684088
chr124907388049073934E0684244
chr124910819549108258E06838559
chr124910843049108484E06838794
chr124910860049108679E06838964
chr124907160349071855E0691967
chr124907189349071976E0692257
chr124907197949072101E0692343
chr124907227349072326E0692637
chr124907233149072381E0692695
chr124907246249072600E0692826
chr124907263249072783E0692996
chr124907279549072924E0693159
chr124907322449073379E0693588
chr124907343949073502E0693803
chr124907353449073617E0693898
chr124907372449073844E0694088
chr124907388049073934E0694244
chr124907401049074163E0694374
chr124907428149074321E0694645
chr124910740349107463E06937767
chr124910752649107576E06937890
chr124910761449107693E06937978
chr124910774049107825E06938104
chr124907105049071101E0701414
chr124907111449071290E0701478
chr124907160349071855E0701967
chr124907189349071976E0702257
chr124907197949072101E0702343
chr124907227349072326E0702637
chr124907233149072381E0702695
chr124907246249072600E0702826
chr124907263249072783E0702996
chr124907279549072924E0703159
chr124910740349107463E07037767
chr124910752649107576E07037890
chr124910761449107693E07037978
chr124910774049107825E07038104
chr124910819549108258E07038559
chr124910843049108484E07038794
chr124907197949072101E0712343
chr124907227349072326E0712637
chr124907233149072381E0712695
chr124907246249072600E0712826
chr124907263249072783E0712996
chr124907279549072924E0713159
chr124907322449073379E0713588
chr124907343949073502E0713803
chr124907353449073617E0713898
chr124907372449073844E0714088
chr124907388049073934E0714244
chr124907401049074163E0714374
chr124907189349071976E0722257
chr124907197949072101E0722343
chr124907246249072600E0722826
chr124907263249072783E0722996
chr124907279549072924E0723159
chr124907322449073379E0723588
chr124907343949073502E0723803
chr124907353449073617E0723898
chr124907372449073844E0724088
chr124907263249072783E0732996
chr124907279549072924E0733159
chr124907322449073379E0733588
chr124907343949073502E0733803
chr124907353449073617E0733898
chr124907372449073844E0734088
chr124907388049073934E0734244
chr124907401049074163E0734374
chr124907428149074321E0734645
chr124907160349071855E0741967
chr124907189349071976E0742257
chr124907197949072101E0742343
chr124907227349072326E0742637
chr124907233149072381E0742695
chr124907246249072600E0742826
chr124907263249072783E0742996
chr124907279549072924E0743159
chr124907322449073379E0743588
chr124907343949073502E0743803
chr124907353449073617E0743898
chr124907372449073844E0744088
chr124907388049073934E0744244
chr124907401049074163E0744374
chr124907105049071101E0811414
chr124907111449071290E0811478
chr124907263249072783E0812996
chr124907279549072924E0813159
chr124907322449073379E0813588
chr124907343949073502E0813803
chr124907353449073617E0813898
chr124907372449073844E0814088
chr124907388049073934E0814244
chr124907401049074163E0814374
chr124907428149074321E0814645
chr124910843049108484E08138794
chr124910860049108679E08138964
chr124907227349072326E0822637
chr124907233149072381E0822695
chr124907246249072600E0822826
chr124910819549108258E08238559










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr124907500149075085E0675365
chr124907513749076490E0675501
chr124910950649109686E06739870
chr124910969849110986E06740062
chr124911104149111700E06741405
chr124907484749074897E0685211
chr124907500149075085E0685365
chr124907513749076490E0685501
chr124907666349076728E0687027
chr124910950649109686E06839870
chr124910969849110986E06840062
chr124911104149111700E06841405
chr124907500149075085E0695365
chr124907513749076490E0695501
chr124910950649109686E06939870
chr124910969849110986E06940062
chr124911104149111700E06941405
chr124907484749074897E0705211
chr124907500149075085E0705365
chr124907513749076490E0705501
chr124907666349076728E0707027
chr124910950649109686E07039870
chr124910969849110986E07040062
chr124911104149111700E07041405
chr124907500149075085E0715365
chr124907513749076490E0715501
chr124907666349076728E0717027
chr124910969849110986E07140062
chr124911104149111700E07141405
chr124907484749074897E0725211
chr124907500149075085E0725365
chr124907513749076490E0725501
chr124907666349076728E0727027
chr124907689649077002E0727260
chr124910950649109686E07239870
chr124910969849110986E07240062
chr124911104149111700E07241405
chr124907500149075085E0735365
chr124907513749076490E0735501
chr124910950649109686E07339870
chr124910969849110986E07340062
chr124911104149111700E07341405
chr124907500149075085E0745365
chr124907513749076490E0745501
chr124910969849110986E07440062
chr124911104149111700E07441405
chr124907484749074897E0815211
chr124907500149075085E0815365
chr124907513749076490E0815501
chr124911104149111700E08141405
chr124907484749074897E0825211
chr124907500149075085E0825365
chr124907513749076490E0825501
chr124907666349076728E0827027
chr124910950649109686E08239870
chr124910969849110986E08240062
chr124911104149111700E08241405