rs11134974

Homo sapiens
C>T
KIAA1191 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0470 (14059/29860,GnomAD)
C==0481 (14008/29118,TOPMED)
T=0485 (2428/5008,1000G)
C==0428 (1649/3854,ALSPAC)
C==0433 (1606/3708,TWINSUK)
chr5:176354956 (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.176354956C>T
GRCh37.p13 chr 5NC_000005.9:g.175781959C>T

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
1000GenomesAfricanSub1322C=0.537T=0.463
1000GenomesAmericanSub694C=0.550T=0.450
1000GenomesEast AsianSub1008C=0.469T=0.531
1000GenomesEuropeSub1006C=0.427T=0.573
1000GenomesGlobalStudy-wide5008C=0.515T=0.485
1000GenomesSouth AsianSub978C=0.600T=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.428T=0.572
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.481T=0.518
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.433T=0.567
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
rs111349740.0000426alcoholismpha002891
rs111349740.0000426alcohol dependence20201924

eQTL of rs11134974 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr5:175781959RP11-844P9.3ENSG00000251667.1C>T2.0263e-446893Cerebellum
Chr5:175781959RP11-826N14.4ENSG00000251623.1C>T5.3199e-8217799Cerebellar_Hemisphere
Chr5:175781959SIMC1ENSG00000170085.13C>T4.3720e-6116594Nucleus_accumbens_basal_ganglia

meQTL of rs11134974 in Fetal Brain

Probe ID Position Gene beta p-value
cg26620356chr5:175789238KIAA1191-0.06249656511794052.1496e-12
cg05970307chr5:175789566KIAA1191-0.04278216148320321.0405e-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 )
chr5175789718175789874E0677759
chr5175813882175813929E06731923
chr5175782512175782653E068553
chr5175782705175782798E068746
chr5175782846175782955E068887
chr5175783053175783244E0681094
chr5175783053175783244E0691094
chr5175783053175783244E0701094
chr5175786741175787026E0704782
chr5175813882175813929E07031923
chr5175786741175787026E0714782
chr5175787427175787467E0715468
chr5175786741175787026E0724782
chr5175828416175828544E07246457
chr5175784607175784666E0732648
chr5175823617175823852E07341658
chr5175823938175824032E07341979
chr5175824121175824350E07342162
chr5175782846175782955E074887
chr5175783053175783244E0741094
chr5175786741175787026E0744782
chr5175786741175787026E0814782
chr5175787427175787467E0815468
chr5175789718175789874E0817759
chr5175813882175813929E08131923
chr5175784607175784666E0822648
chr5175794869175794940E08212910
chr5175813882175813929E08231923










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5175787898175789634E0675939
chr5175791943175793683E0679984
chr5175814655175814868E06732696
chr5175814935175816695E06732976
chr5175787898175789634E0685939
chr5175791943175793683E0689984
chr5175814655175814868E06832696
chr5175814935175816695E06832976
chr5175787898175789634E0695939
chr5175791943175793683E0699984
chr5175814655175814868E06932696
chr5175814935175816695E06932976
chr5175787898175789634E0705939
chr5175791943175793683E0709984
chr5175814655175814868E07032696
chr5175814935175816695E07032976
chr5175787898175789634E0715939
chr5175791943175793683E0719984
chr5175814655175814868E07132696
chr5175814935175816695E07132976
chr5175787898175789634E0725939
chr5175791943175793683E0729984
chr5175814655175814868E07232696
chr5175814935175816695E07232976
chr5175787898175789634E0735939
chr5175791943175793683E0739984
chr5175814655175814868E07332696
chr5175814935175816695E07332976
chr5175787898175789634E0745939
chr5175791943175793683E0749984
chr5175814655175814868E07432696
chr5175814935175816695E07432976
chr5175787898175789634E0815939
chr5175814655175814868E08132696
chr5175814935175816695E08132976
chr5175787898175789634E0825939
chr5175791943175793683E0829984
chr5175814655175814868E08232696
chr5175814935175816695E08232976