rs4542452

Homo sapiens
C>A
LOC105369901 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0391 (11704/29892,GnomAD)
A=0381 (11094/29118,TOPMED)
A=0417 (2090/5008,1000G)
A=0351 (1351/3854,ALSPAC)
A=0357 (1323/3708,TWINSUK)
chr12:91945057 (GRCh38.p7) (12q21.33)
AD
GWASdb2
1   publication(s)
See rs on genome
55 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.91945057C>A
GRCh37.p13 chr 12NC_000012.11:g.92338833C>A

Gene: LOC105369901, uncharacterized LOC105369901(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105369901 transcript variant X2XR_001749253.1:n.N/AIntron Variant
LOC105369901 transcript variant X3XR_001749254.1:n.N/AIntron Variant
LOC105369901 transcript variant X4XR_001749255.1:n.N/AIntron Variant
LOC105369901 transcript variant X5XR_001749256.1:n.N/AIntron Variant
LOC105369901 transcript variant X1XR_945202.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.573A=0.427
1000GenomesAmericanSub694C=0.530A=0.470
1000GenomesEast AsianSub1008C=0.598A=0.402
1000GenomesEuropeSub1006C=0.621A=0.379
1000GenomesGlobalStudy-wide5008C=0.583A=0.417
1000GenomesSouth AsianSub978C=0.570A=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.649A=0.351
The Genome Aggregation DatabaseAfricanSub8696C=0.576A=0.424
The Genome Aggregation DatabaseAmericanSub836C=0.490A=0.510
The Genome Aggregation DatabaseEast AsianSub1598C=0.612A=0.388
The Genome Aggregation DatabaseEuropeSub18460C=0.627A=0.372
The Genome Aggregation DatabaseGlobalStudy-wide29892C=0.608A=0.391
The Genome Aggregation DatabaseOtherSub302C=0.700A=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.619A=0.381
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.643A=0.357
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
rs45424520.00051alcohol dependence20201924

eQTL of rs4542452 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 rs4542452 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 )
chr129237908692379878E06740253
chr129237992792380182E06741094
chr129238034192380598E06741508
chr129237840992378679E06839576
chr129237992792380182E06841094
chr129238034192380598E06841508
chr129238185892382373E06843025
chr129238239492382520E06843561
chr129238254592382624E06843712
chr129238185892382373E06943025
chr129229048492291024E070-47809
chr129229110292291152E070-47681
chr129237726192377311E07038428
chr129237735892377408E07038525
chr129237741092377494E07038577
chr129237779292377997E07038959
chr129237822292378408E07039389
chr129237840992378679E07039576
chr129237889292379063E07040059
chr129237908692379878E07040253
chr129237992792380182E07041094
chr129238034192380598E07041508
chr129238073892380790E07041905
chr129238096992381013E07042136
chr129238135792381684E07042524
chr129238185892382373E07043025
chr129238239492382520E07043561
chr129238632392386403E07047490
chr129238650392386662E07047670
chr129238681492386867E07047981
chr129238723692387286E07048403
chr129238746892387522E07048635
chr129238759792387694E07048764
chr129238770392387822E07048870
chr129238793492388056E07049101
chr129238810792388176E07049274
chr129237889292379063E07140059
chr129237908692379878E07140253
chr129237992792380182E07141094
chr129238034192380598E07141508
chr129238073892380790E07141905
chr129238096992381013E07142136
chr129238135792381684E07142524
chr129238185892382373E07243025
chr129238239492382520E07243561
chr129238254592382624E07243712
chr129237908692379878E07440253
chr129237992792380182E07441094
chr129238185892382373E07443025
chr129238239492382520E07443561
chr129229110292291152E081-47681
chr129238770392387822E08148870
chr129238793492388056E08149101
chr129238810792388176E08149274
chr129238135792381684E08242524