rs10893332

Homo sapiens
C>T
PKNOX2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0139 (4170/29932,GnomAD)
T=0090 (2641/29118,TOPMED)
T=0214 (1070/5008,1000G)
T=0133 (513/3854,ALSPAC)
T=0142 (528/3708,TWINSUK)
chr11:125125208 (GRCh38.p7) (11q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
77 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.125125208C>T
GRCh37.p13 chr 11NC_000011.9:g.124995104C>T

Gene: PKNOX2, PBX/knotted 1 homeobox 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PKNOX2 transcriptNM_022062.2:c.N/AGenic Upstream Transcript Variant
PKNOX2 transcript variant X2XM_017018110.1:c.N/AIntron Variant
PKNOX2 transcript variant X5XM_005271642.2:c.N/AGenic Upstream Transcript Variant
PKNOX2 transcript variant X5XM_005271643.2:c.N/AGenic Upstream Transcript Variant
PKNOX2 transcript variant X12XM_006718894.2:c.N/AGenic Upstream Transcript Variant
PKNOX2 transcript variant X2XM_011542944.2:c.N/AGenic Upstream Transcript Variant
PKNOX2 transcript variant X6XM_011542945.2:c.N/AGenic Upstream Transcript Variant
PKNOX2 transcript variant X11XM_011542946.1:c.N/AGenic Upstream Transcript Variant
PKNOX2 transcript variant X13XM_011542947.2:c.N/AGenic Upstream Transcript Variant
PKNOX2 transcript variant X14XM_017018111.1:c.N/AGenic Upstream Transcript Variant
PKNOX2 transcript variant X10XM_017018112.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.986T=0.014
1000GenomesAmericanSub694C=0.820T=0.180
1000GenomesEast AsianSub1008C=0.418T=0.582
1000GenomesEuropeSub1006C=0.855T=0.145
1000GenomesGlobalStudy-wide5008C=0.786T=0.214
1000GenomesSouth AsianSub978C=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.867T=0.133
The Genome Aggregation DatabaseAfricanSub8720C=0.964T=0.036
The Genome Aggregation DatabaseAmericanSub838C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1616C=0.422T=0.578
The Genome Aggregation DatabaseEuropeSub18456C=0.851T=0.148
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.860T=0.139
The Genome Aggregation DatabaseOtherSub302C=0.910T=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.909T=0.090
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.858T=0.142
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
rs108933320.00067alcohol dependence20201924

eQTL of rs10893332 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr11:124995104KRT18P59ENSG00000187686.4C>T4.4378e-312047Anterior_cingulate_cortex

meQTL of rs10893332 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 )
chr11124977967124978138E067-16966
chr11124978386124978713E067-16391
chr11124980141124980216E067-14888
chr11124980222124980272E067-14832
chr11124980222124980272E068-14832
chr11125038615125038676E06843511
chr11125038703125041292E06843599
chr11125041398125041453E06846294
chr11125041565125041615E06846461
chr11125011461125012287E06916357
chr11125038703125041292E06943599
chr11125041398125041453E06946294
chr11125041565125041615E06946461
chr11125041642125041731E06946538
chr11125041855125041917E06946751
chr11125041953125042052E06946849
chr11124960889124962035E070-33069
chr11124980141124980216E070-14888
chr11124980222124980272E070-14832
chr11124999605124999675E0704501
chr11124999713124999787E0704609
chr11124999835124999964E0704731
chr11125007092125007142E07011988
chr11125007528125007578E07012424
chr11125008307125008490E07013203
chr11125008679125008763E07013575
chr11125009191125009278E07014087
chr11125010999125011129E07015895
chr11125011138125011450E07016034
chr11125011461125012287E07016357
chr11125026042125026102E07030938
chr11125026181125026231E07031077
chr11125026414125026479E07031310
chr11125026641125026714E07031537
chr11125026739125026909E07031635
chr11125026913125027167E07031809
chr11125027278125027541E07032174
chr11125027737125027809E07032633
chr11125027984125028085E07032880
chr11125028163125028245E07033059
chr11125038615125038676E07043511
chr11125038703125041292E07043599
chr11125038703125041292E07143599
chr11125038703125041292E07243599
chr11124960832124960872E073-34232
chr11124960889124962035E073-33069
chr11125038615125038676E07343511
chr11125038703125041292E07343599
chr11125041398125041453E07346294
chr11125041565125041615E07346461
chr11125041642125041731E07346538
chr11125041855125041917E07346751
chr11125041953125042052E07346849
chr11124950089124950200E074-44904
chr11125011138125011450E07416034
chr11125011461125012287E07416357
chr11125009497125009683E08114393
chr11125009715125010689E08114611
chr11125010701125010761E08115597
chr11125010763125010977E08115659
chr11125010999125011129E08115895
chr11125011138125011450E08116034
chr11125028954125028998E08133850
chr11125029339125029425E08134235
chr11125029434125029484E08134330
chr11125038615125038676E08143511
chr11125038703125041292E08143599
chr11125041398125041453E08146294
chr11125041565125041615E08146461
chr11125041642125041731E08146538
chr11124978386124978713E082-16391
chr11124978800124978874E082-16230
chr11125009497125009683E08214393
chr11125009715125010689E08214611
chr11125010701125010761E08215597
chr11125010763125010977E08215659
chr11125010999125011129E08215895










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11124980833124982246E067-12858
chr11124994067124994391E067-713
chr11125033136125038599E06738032
chr11124980833124982246E068-12858
chr11124994067124994391E068-713
chr11125033136125038599E06838032
chr11124980833124982246E069-12858
chr11125033136125038599E06938032
chr11124980833124982246E070-12858
chr11125033136125038599E07038032
chr11124980833124982246E071-12858
chr11124994067124994391E071-713
chr11125033136125038599E07138032
chr11124980833124982246E072-12858
chr11125033136125038599E07238032
chr11124980833124982246E073-12858
chr11125033136125038599E07338032
chr11124980833124982246E074-12858
chr11124994067124994391E074-713
chr11125033136125038599E07438032
chr11124980833124982246E081-12858
chr11125033136125038599E08138032
chr11124980833124982246E082-12858
chr11125033136125038599E08238032