rs888936

Homo sapiens
C>T
KCNIP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0267 (7986/29872,GnomAD)
C==0265 (7727/29118,TOPMED)
C==0248 (1244/5008,1000G)
C==0259 (998/3854,ALSPAC)
C==0256 (951/3708,TWINSUK)
chr5:170496899 (GRCh38.p7) (5q35.1)
AD
GWASdb2
1   publication(s)
See rs on genome
138 Enhancers around
31 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.170496899C>T
GRCh37.p13 chr 5NC_000005.9:g.169923903C>T
KCNIP1 RefSeqGeneNG_011538.1:g.148023C>T

Gene: KCNIP1, potassium voltage-gated channel interacting protein 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNIP1 transcript variant 3NM_001034838.2:c.N/AIntron Variant
KCNIP1 transcript variant 1NM_001034837.2:c.N/AGenic Upstream Transcript Variant
KCNIP1 transcript variant 5NM_001278339.1:c.N/AGenic Upstream Transcript Variant
KCNIP1 transcript variant 4NM_001278340.1:c.N/AGenic Upstream Transcript Variant
KCNIP1 transcript variant 2NM_014592.3:c.N/AGenic Upstream Transcript Variant
KCNIP1 transcript variant X1XM_017009407.1:c.N/AIntron Variant
KCNIP1 transcript variant X2XM_017009408.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.281T=0.719
1000GenomesAmericanSub694C=0.210T=0.790
1000GenomesEast AsianSub1008C=0.275T=0.725
1000GenomesEuropeSub1006C=0.265T=0.735
1000GenomesGlobalStudy-wide5008C=0.248T=0.752
1000GenomesSouth AsianSub978C=0.190T=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.259T=0.741
The Genome Aggregation DatabaseAfricanSub8678C=0.279T=0.721
The Genome Aggregation DatabaseAmericanSub838C=0.220T=0.780
The Genome Aggregation DatabaseEast AsianSub1614C=0.321T=0.679
The Genome Aggregation DatabaseEuropeSub18442C=0.259T=0.740
The Genome Aggregation DatabaseGlobalStudy-wide29872C=0.267T=0.732
The Genome Aggregation DatabaseOtherSub300C=0.270T=0.730
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.265T=0.734
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.256T=0.744
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs8889365.6E-05alcoholism (heaviness of drinking)21529783

eQTL of rs888936 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 rs888936 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 )
chr5169920045169920625E067-3278
chr5169921181169921406E067-2497
chr5169949052169949120E06725149
chr5169949201169949797E06725298
chr5169949902169950052E06725999
chr5169950164169950220E06726261
chr5169950267169950484E06726364
chr5169950667169950810E06726764
chr5169954504169954577E06730601
chr5169964194169964244E06740291
chr5169964813169965104E06740910
chr5169965138169965411E06741235
chr5169965594169965647E06741691
chr5169919316169919387E068-4516
chr5169920045169920625E068-3278
chr5169921181169921406E068-2497
chr5169936130169936303E06812227
chr5169936410169936480E06812507
chr5169949052169949120E06825149
chr5169949201169949797E06825298
chr5169949902169950052E06825999
chr5169950164169950220E06826261
chr5169950267169950484E06826364
chr5169950667169950810E06826764
chr5169964813169965104E06840910
chr5169965138169965411E06841235
chr5169965594169965647E06841691
chr5169970009169970142E06846106
chr5169920045169920625E069-3278
chr5169921181169921406E069-2497
chr5169947123169947226E06923220
chr5169947426169947619E06923523
chr5169949052169949120E06925149
chr5169949201169949797E06925298
chr5169949902169950052E06925999
chr5169950164169950220E06926261
chr5169950267169950484E06926364
chr5169950667169950810E06926764
chr5169964194169964244E06940291
chr5169964813169965104E06940910
chr5169965138169965411E06941235
chr5169924762169924928E070859
chr5169936130169936303E07012227
chr5169936410169936480E07012507
chr5169946695169946748E07022792
chr5169946810169946871E07022907
chr5169946960169947040E07023057
chr5169947123169947226E07023220
chr5169947426169947619E07023523
chr5169948294169948430E07024391
chr5169949052169949120E07025149
chr5169950667169950810E07026764
chr5169952550169952656E07028647
chr5169954504169954577E07030601
chr5169954911169954951E07031008
chr5169955118169955215E07031215
chr5169916177169916274E071-7629
chr5169916328169916393E071-7510
chr5169919316169919387E071-4516
chr5169920045169920625E071-3278
chr5169921181169921406E071-2497
chr5169949052169949120E07125149
chr5169949201169949797E07125298
chr5169950667169950810E07126764
chr5169963718169963872E07139815
chr5169964194169964244E07140291
chr5169964813169965104E07140910
chr5169965138169965411E07141235
chr5169965594169965647E07141691
chr5169970009169970142E07146106
chr5169921181169921406E072-2497
chr5169949052169949120E07225149
chr5169949201169949797E07225298
chr5169949902169950052E07225999
chr5169950164169950220E07226261
chr5169950267169950484E07226364
chr5169950667169950810E07226764
chr5169964813169965104E07240910
chr5169965138169965411E07241235
chr5169965594169965647E07241691
chr5169921181169921406E073-2497
chr5169949052169949120E07325149
chr5169949201169949797E07325298
chr5169949902169950052E07325999
chr5169950164169950220E07326261
chr5169950267169950484E07326364
chr5169950667169950810E07326764
chr5169963718169963872E07339815
chr5169964194169964244E07340291
chr5169964813169965104E07340910
chr5169965138169965411E07341235
chr5169965594169965647E07341691
chr5169920045169920625E074-3278
chr5169921181169921406E074-2497
chr5169949052169949120E07425149
chr5169949201169949797E07425298
chr5169949902169950052E07425999
chr5169950164169950220E07426261
chr5169950267169950484E07426364
chr5169950667169950810E07426764
chr5169954504169954577E07430601
chr5169964813169965104E07440910
chr5169965138169965411E07441235
chr5169965594169965647E07441691
chr5169915363169915640E081-8263
chr5169916177169916274E081-7629
chr5169916328169916393E081-7510
chr5169919316169919387E081-4516
chr5169924569169924619E081666
chr5169924762169924928E081859
chr5169925257169925333E0811354
chr5169926040169926317E0812137
chr5169926566169926672E0812663
chr5169946810169946871E08122907
chr5169946960169947040E08123057
chr5169947123169947226E08123220
chr5169947426169947619E08123523
chr5169949052169949120E08125149
chr5169949201169949797E08125298
chr5169949902169950052E08125999
chr5169950164169950220E08126261
chr5169950267169950484E08126364
chr5169950667169950810E08126764
chr5169915363169915640E082-8263
chr5169916177169916274E082-7629
chr5169916328169916393E082-7510
chr5169918381169918946E082-4957
chr5169919316169919387E082-4516
chr5169926040169926317E0822137
chr5169926566169926672E0822663
chr5169936130169936303E08212227
chr5169936410169936480E08212507
chr5169946960169947040E08223057
chr5169947123169947226E08223220
chr5169947426169947619E08223523
chr5169949052169949120E08225149
chr5169949201169949797E08225298
chr5169950667169950810E08226764










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5169930599169930730E0676696
chr5169930772169930956E0676869
chr5169930993169931499E0677090
chr5169931517169931667E0677614
chr5169930599169930730E0686696
chr5169930772169930956E0686869
chr5169930993169931499E0687090
chr5169931517169931667E0687614
chr5169930772169930956E0696869
chr5169930993169931499E0697090
chr5169931517169931667E0697614
chr5169930599169930730E0706696
chr5169930772169930956E0706869
chr5169930993169931499E0707090
chr5169931517169931667E0707614
chr5169930599169930730E0716696
chr5169930772169930956E0716869
chr5169930993169931499E0717090
chr5169930993169931499E0727090
chr5169931517169931667E0727614
chr5169930599169930730E0736696
chr5169930772169930956E0736869
chr5169930993169931499E0737090
chr5169931517169931667E0737614
chr5169930772169930956E0746869
chr5169930993169931499E0747090
chr5169931517169931667E0747614
chr5169930599169930730E0826696
chr5169930772169930956E0826869
chr5169930993169931499E0827090
chr5169931517169931667E0827614