rs7315319

Homo sapiens
T>C
KANSL2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0018 (541/29974,GnomAD)
C=0028 (841/29118,TOPMED)
C=0017 (85/5008,1000G)
C=0000 (1/3854,ALSPAC)
C=0000 (0/3708,TWINSUK)
chr12:48673157 (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.48673157T>C
GRCh37.p13 chr 12NC_000012.11:g.49066940T>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=0.936C=0.064
1000GenomesAmericanSub694T=1.000C=0.000
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.999C=0.001
1000GenomesGlobalStudy-wide5008T=0.983C=0.017
1000GenomesSouth AsianSub978T=1.000C=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=1.000C=0.000
The Genome Aggregation DatabaseAfricanSub8722T=0.939C=0.061
The Genome Aggregation DatabaseAmericanSub838T=1.000C=0.000
The Genome Aggregation DatabaseEast AsianSub1618T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18494T=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29974T=0.982C=0.018
The Genome Aggregation DatabaseOtherSub302T=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.971C=0.028
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
rs73153190.0000584alcoholismpha002891
rs73153190.0000584alcohol dependence20201924

eQTL of rs7315319 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 rs7315319 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 )
chr124907263249072783E0675692
chr124907279549072924E0675855
chr124907322449073379E0676284
chr124907343949073502E0676499
chr124907353449073617E0676594
chr124907372449073844E0676784
chr124907388049073934E0676940
chr124907401049074163E0677070
chr124907428149074321E0677341
chr124910761449107693E06740674
chr124910774049107825E06740800
chr124910819549108258E06741255
chr124910843049108484E06741490
chr124910860049108679E06741660
chr124907111449071290E0684174
chr124907160349071855E0684663
chr124907189349071976E0684953
chr124907197949072101E0685039
chr124907227349072326E0685333
chr124907233149072381E0685391
chr124907246249072600E0685522
chr124907343949073502E0686499
chr124907353449073617E0686594
chr124907372449073844E0686784
chr124907388049073934E0686940
chr124910819549108258E06841255
chr124910843049108484E06841490
chr124910860049108679E06841660
chr124907160349071855E0694663
chr124907189349071976E0694953
chr124907197949072101E0695039
chr124907227349072326E0695333
chr124907233149072381E0695391
chr124907246249072600E0695522
chr124907263249072783E0695692
chr124907279549072924E0695855
chr124907322449073379E0696284
chr124907343949073502E0696499
chr124907353449073617E0696594
chr124907372449073844E0696784
chr124907388049073934E0696940
chr124907401049074163E0697070
chr124907428149074321E0697341
chr124910740349107463E06940463
chr124910752649107576E06940586
chr124910761449107693E06940674
chr124910774049107825E06940800
chr124907105049071101E0704110
chr124907111449071290E0704174
chr124907160349071855E0704663
chr124907189349071976E0704953
chr124907197949072101E0705039
chr124907227349072326E0705333
chr124907233149072381E0705391
chr124907246249072600E0705522
chr124907263249072783E0705692
chr124907279549072924E0705855
chr124910740349107463E07040463
chr124910752649107576E07040586
chr124910761449107693E07040674
chr124910774049107825E07040800
chr124910819549108258E07041255
chr124910843049108484E07041490
chr124907197949072101E0715039
chr124907227349072326E0715333
chr124907233149072381E0715391
chr124907246249072600E0715522
chr124907263249072783E0715692
chr124907279549072924E0715855
chr124907322449073379E0716284
chr124907343949073502E0716499
chr124907353449073617E0716594
chr124907372449073844E0716784
chr124907388049073934E0716940
chr124907401049074163E0717070
chr124907189349071976E0724953
chr124907197949072101E0725039
chr124907246249072600E0725522
chr124907263249072783E0725692
chr124907279549072924E0725855
chr124907322449073379E0726284
chr124907343949073502E0726499
chr124907353449073617E0726594
chr124907372449073844E0726784
chr124907263249072783E0735692
chr124907279549072924E0735855
chr124907322449073379E0736284
chr124907343949073502E0736499
chr124907353449073617E0736594
chr124907372449073844E0736784
chr124907388049073934E0736940
chr124907401049074163E0737070
chr124907428149074321E0737341
chr124907160349071855E0744663
chr124907189349071976E0744953
chr124907197949072101E0745039
chr124907227349072326E0745333
chr124907233149072381E0745391
chr124907246249072600E0745522
chr124907263249072783E0745692
chr124907279549072924E0745855
chr124907322449073379E0746284
chr124907343949073502E0746499
chr124907353449073617E0746594
chr124907372449073844E0746784
chr124907388049073934E0746940
chr124907401049074163E0747070
chr124907105049071101E0814110
chr124907111449071290E0814174
chr124907263249072783E0815692
chr124907279549072924E0815855
chr124907322449073379E0816284
chr124907343949073502E0816499
chr124907353449073617E0816594
chr124907372449073844E0816784
chr124907388049073934E0816940
chr124907401049074163E0817070
chr124907428149074321E0817341
chr124910843049108484E08141490
chr124910860049108679E08141660
chr124907227349072326E0825333
chr124907233149072381E0825391
chr124907246249072600E0825522
chr124910819549108258E08241255










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr124907500149075085E0678061
chr124907513749076490E0678197
chr124910950649109686E06742566
chr124910969849110986E06742758
chr124911104149111700E06744101
chr124907484749074897E0687907
chr124907500149075085E0688061
chr124907513749076490E0688197
chr124907666349076728E0689723
chr124910950649109686E06842566
chr124910969849110986E06842758
chr124911104149111700E06844101
chr124907500149075085E0698061
chr124907513749076490E0698197
chr124910950649109686E06942566
chr124910969849110986E06942758
chr124911104149111700E06944101
chr124907484749074897E0707907
chr124907500149075085E0708061
chr124907513749076490E0708197
chr124907666349076728E0709723
chr124910950649109686E07042566
chr124910969849110986E07042758
chr124911104149111700E07044101
chr124907500149075085E0718061
chr124907513749076490E0718197
chr124907666349076728E0719723
chr124910969849110986E07142758
chr124911104149111700E07144101
chr124907484749074897E0727907
chr124907500149075085E0728061
chr124907513749076490E0728197
chr124907666349076728E0729723
chr124907689649077002E0729956
chr124910950649109686E07242566
chr124910969849110986E07242758
chr124911104149111700E07244101
chr124907500149075085E0738061
chr124907513749076490E0738197
chr124910950649109686E07342566
chr124910969849110986E07342758
chr124911104149111700E07344101
chr124907500149075085E0748061
chr124907513749076490E0748197
chr124910969849110986E07442758
chr124911104149111700E07444101
chr124907484749074897E0817907
chr124907500149075085E0818061
chr124907513749076490E0818197
chr124911104149111700E08144101
chr124907484749074897E0827907
chr124907500149075085E0828061
chr124907513749076490E0828197
chr124907666349076728E0829723
chr124910950649109686E08242566
chr124910969849110986E08242758
chr124911104149111700E08244101