rs10063877

Homo sapiens
T>C
KIAA1191 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0467 (13970/29910,GnomAD)
T==0477 (13889/29118,TOPMED)
C=0487 (2437/5008,1000G)
T==0420 (1617/3854,ALSPAC)
T==0425 (1576/3708,TWINSUK)
chr5:176357917 (GRCh38.p7) (5q35.2)
AD
GWASdb2
1   publication(s)
See rs on genome
28 Enhancers around
39 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.176357917T>C
GRCh37.p13 chr 5NC_000005.9:g.175784920T>C

Gene: KIAA1191, KIAA1191(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KIAA1191 transcript variant 2NM_001079684.2:c.N/AIntron Variant
KIAA1191 transcript variant 3NM_001079685.2:c.N/AIntron Variant
KIAA1191 transcript variant 4NM_001287335.1:c.N/AIntron Variant
KIAA1191 transcript variant 5NM_001287336.1:c.N/AIntron Variant
KIAA1191 transcript variant 1NM_020444.4:c.N/AIntron Variant
KIAA1191 transcript variant 6NR_109796.1:n.N/AIntron Variant
KIAA1191 transcript variant 7NR_109797.1:n.N/AIntron Variant
KIAA1191 transcript variant 8NR_109798.1:n.N/AIntron Variant
KIAA1191 transcript variant 9NR_109799.1:n.N/AIntron Variant
KIAA1191 transcript variant 10NR_109800.1:n.N/AIntron Variant
KIAA1191 transcript variant X3XM_005265941.1:c.N/AIntron Variant
KIAA1191 transcript variant X7XM_005265945.1:c.N/AIntron Variant
KIAA1191 transcript variant X1XM_005265946.4:c.N/AIntron Variant
KIAA1191 transcript variant X5XM_011534595.1:c.N/AIntron Variant
KIAA1191 transcript variant X6XM_011534596.1:c.N/AIntron Variant
KIAA1191 transcript variant X2XM_017009651.1:c.N/AIntron Variant
KIAA1191 transcript variant X4XM_017009652.1:c.N/AIntron Variant
KIAA1191 transcript variant X8XM_017009653.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.540C=0.460
1000GenomesAmericanSub694T=0.540C=0.460
1000GenomesEast AsianSub1008T=0.469C=0.531
1000GenomesEuropeSub1006T=0.420C=0.580
1000GenomesGlobalStudy-wide5008T=0.513C=0.487
1000GenomesSouth AsianSub978T=0.600C=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.420C=0.580
The Genome Aggregation DatabaseAfricanSub8700T=0.530C=0.470
The Genome Aggregation DatabaseAmericanSub836T=0.520C=0.480
The Genome Aggregation DatabaseEast AsianSub1610T=0.458C=0.542
The Genome Aggregation DatabaseEuropeSub18462T=0.436C=0.563
The Genome Aggregation DatabaseGlobalStudy-wide29910T=0.467C=0.532
The Genome Aggregation DatabaseOtherSub302T=0.410C=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.477C=0.523
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.425C=0.575
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
rs100638770.0000375alcoholismpha002891
rs100638770.0000375alcohol dependence20201924

eQTL of rs10063877 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr5:175784920RP11-844P9.3ENSG00000251667.1T>C2.0263e-449854Cerebellum
Chr5:175784920RP11-826N14.4ENSG00000251623.1T>C1.0592e-8220760Cortex
Chr5:175784920RP11-826N14.4ENSG00000251623.1T>C5.3199e-8220760Cerebellar_Hemisphere
Chr5:175784920SIMC1ENSG00000170085.13T>C4.3720e-6119555Nucleus_accumbens_basal_ganglia

meQTL of rs10063877 in Fetal Brain

Probe ID Position Gene beta p-value
cg26620356chr5:175789238KIAA1191-0.06072231626748464.8533e-12
cg05970307chr5:175789566KIAA1191-0.04184753860543861.4854e-10

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 )
chr5175789718175789874E0674798
chr5175813882175813929E06728962
chr5175782512175782653E068-2267
chr5175782705175782798E068-2122
chr5175782846175782955E068-1965
chr5175783053175783244E068-1676
chr5175783053175783244E069-1676
chr5175783053175783244E070-1676
chr5175786741175787026E0701821
chr5175813882175813929E07028962
chr5175786741175787026E0711821
chr5175787427175787467E0712507
chr5175786741175787026E0721821
chr5175828416175828544E07243496
chr5175784607175784666E073-254
chr5175823617175823852E07338697
chr5175823938175824032E07339018
chr5175824121175824350E07339201
chr5175782846175782955E074-1965
chr5175783053175783244E074-1676
chr5175786741175787026E0741821
chr5175786741175787026E0811821
chr5175787427175787467E0812507
chr5175789718175789874E0814798
chr5175813882175813929E08128962
chr5175784607175784666E082-254
chr5175794869175794940E0829949
chr5175813882175813929E08228962










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5175787898175789634E0672978
chr5175791943175793683E0677023
chr5175814655175814868E06729735
chr5175814935175816695E06730015
chr5175787898175789634E0682978
chr5175791943175793683E0687023
chr5175814655175814868E06829735
chr5175814935175816695E06830015
chr5175787898175789634E0692978
chr5175791943175793683E0697023
chr5175814655175814868E06929735
chr5175814935175816695E06930015
chr5175787898175789634E0702978
chr5175791943175793683E0707023
chr5175814655175814868E07029735
chr5175814935175816695E07030015
chr5175787898175789634E0712978
chr5175791943175793683E0717023
chr5175814655175814868E07129735
chr5175814935175816695E07130015
chr5175787898175789634E0722978
chr5175791943175793683E0727023
chr5175814655175814868E07229735
chr5175814935175816695E07230015
chr5175787898175789634E0732978
chr5175791943175793683E0737023
chr5175814655175814868E07329735
chr5175814935175816695E07330015
chr5175787898175789634E0742978
chr5175791943175793683E0747023
chr5175814655175814868E07429735
chr5175814935175816695E07430015
chr5175787898175789634E0812978
chr5175814655175814868E08129735
chr5175814935175816695E08130015
chr5175787898175789634E0822978
chr5175791943175793683E0827023
chr5175814655175814868E08229735
chr5175814935175816695E08230015