rs11134973

Homo sapiens
C>T
SIMC1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0475 (14134/29738,GnomAD)
C==0480 (13984/29118,TOPMED)
T=0484 (2424/5008,1000G)
C==0432 (1664/3854,ALSPAC)
C==0436 (1617/3708,TWINSUK)
chr5:176343419 (GRCh38.p7) (5q35.2)
AD
GWASdb2
1   publication(s)
See rs on genome
24 Enhancers around
39 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.176343419C>T
GRCh37.p13 chr 5NC_000005.9:g.175770422C>T

Gene: SIMC1, SUMO interacting motifs containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SIMC1 transcript variant 1NM_001308195.1:c.N/AIntron Variant
SIMC1 transcript variant 3NM_001308196.1:c.N/AIntron Variant
SIMC1 transcript variant 4NM_001308200.1:c.N/AIntron Variant
SIMC1 transcript variant 2NM_198567.5:c.N/AIntron Variant
SIMC1 transcript variant 5NR_131772.1:n.N/AIntron Variant
SIMC1 transcript variant X1XM_011534553.2:c.N/AIntron Variant
SIMC1 transcript variant X2XM_011534554.2:c.N/AIntron Variant
SIMC1 transcript variant X4XM_011534556.2:c.N/AIntron Variant
SIMC1 transcript variant X3XM_017009454.1:c.N/AIntron Variant
SIMC1 transcript variant X5XM_017009455.1:c.N/AIntron Variant
SIMC1 transcript variant X6XM_017009456.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.542T=0.458
1000GenomesAmericanSub694C=0.550T=0.450
1000GenomesEast AsianSub1008C=0.469T=0.531
1000GenomesEuropeSub1006C=0.426T=0.574
1000GenomesGlobalStudy-wide5008C=0.516T=0.484
1000GenomesSouth AsianSub978C=0.600T=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.432T=0.568
The Genome Aggregation DatabaseAfricanSub8646C=0.539T=0.461
The Genome Aggregation DatabaseAmericanSub836C=0.530T=0.470
The Genome Aggregation DatabaseEast AsianSub1588C=0.465T=0.535
The Genome Aggregation DatabaseEuropeSub18366C=0.444T=0.555
The Genome Aggregation DatabaseGlobalStudy-wide29738C=0.475T=0.524
The Genome Aggregation DatabaseOtherSub302C=0.420T=0.580
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.480T=0.519
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.436T=0.564
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
rs111349730.0000229alcoholismpha002891
rs111349730.0000229alcohol dependence20201924

eQTL of rs11134973 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr5:175770422RP11-844P9.3ENSG00000251667.1C>T2.0263e-435356Cerebellum
Chr5:175770422RP11-826N14.4ENSG00000251623.1C>T5.3199e-8206262Cerebellar_Hemisphere
Chr5:175770422SIMC1ENSG00000170085.13C>T4.3720e-6105057Nucleus_accumbens_basal_ganglia

meQTL of rs11134973 in Fetal Brain

Probe ID Position Gene beta p-value
cg26620356chr5:175789238KIAA1191-0.06349488814325131.0428e-12
cg05970307chr5:175789566KIAA1191-0.04287486538093011.1255e-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 )
chr5175789718175789874E06719296
chr5175813882175813929E06743460
chr5175782512175782653E06812090
chr5175782705175782798E06812283
chr5175782846175782955E06812424
chr5175783053175783244E06812631
chr5175783053175783244E06912631
chr5175783053175783244E07012631
chr5175786741175787026E07016319
chr5175813882175813929E07043460
chr5175786741175787026E07116319
chr5175787427175787467E07117005
chr5175786741175787026E07216319
chr5175784607175784666E07314185
chr5175782846175782955E07412424
chr5175783053175783244E07412631
chr5175786741175787026E07416319
chr5175786741175787026E08116319
chr5175787427175787467E08117005
chr5175789718175789874E08119296
chr5175813882175813929E08143460
chr5175784607175784666E08214185
chr5175794869175794940E08224447
chr5175813882175813929E08243460










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5175787898175789634E06717476
chr5175791943175793683E06721521
chr5175814655175814868E06744233
chr5175814935175816695E06744513
chr5175787898175789634E06817476
chr5175791943175793683E06821521
chr5175814655175814868E06844233
chr5175814935175816695E06844513
chr5175787898175789634E06917476
chr5175791943175793683E06921521
chr5175814655175814868E06944233
chr5175814935175816695E06944513
chr5175787898175789634E07017476
chr5175791943175793683E07021521
chr5175814655175814868E07044233
chr5175814935175816695E07044513
chr5175787898175789634E07117476
chr5175791943175793683E07121521
chr5175814655175814868E07144233
chr5175814935175816695E07144513
chr5175787898175789634E07217476
chr5175791943175793683E07221521
chr5175814655175814868E07244233
chr5175814935175816695E07244513
chr5175787898175789634E07317476
chr5175791943175793683E07321521
chr5175814655175814868E07344233
chr5175814935175816695E07344513
chr5175787898175789634E07417476
chr5175791943175793683E07421521
chr5175814655175814868E07444233
chr5175814935175816695E07444513
chr5175787898175789634E08117476
chr5175814655175814868E08144233
chr5175814935175816695E08144513
chr5175787898175789634E08217476
chr5175791943175793683E08221521
chr5175814655175814868E08244233
chr5175814935175816695E08244513