rs11123504

Homo sapiens
G>A
LOC107985941 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0319 (9570/29928,GnomAD)
A=0295 (8590/29116,TOPMED)
A=0220 (1102/5008,1000G)
A=0419 (1615/3854,ALSPAC)
A=0402 (1491/3708,TWINSUK)
chr2:119185310 (GRCh38.p7) (2q14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
41 Enhancers around
55 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.119185310G>A
GRCh37.p13 chr 2NC_000002.11:g.119942886G>A

Gene: LOC107985941, uncharacterized LOC107985941(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107985941 transcriptXR_001739665.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.847A=0.153
1000GenomesAmericanSub694G=0.610A=0.390
1000GenomesEast AsianSub1008G=0.913A=0.087
1000GenomesEuropeSub1006G=0.594A=0.406
1000GenomesGlobalStudy-wide5008G=0.780A=0.220
1000GenomesSouth AsianSub978G=0.860A=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.581A=0.419
The Genome Aggregation DatabaseAfricanSub8706G=0.807A=0.193
The Genome Aggregation DatabaseAmericanSub836G=0.560A=0.440
The Genome Aggregation DatabaseEast AsianSub1622G=0.916A=0.084
The Genome Aggregation DatabaseEuropeSub18462G=0.605A=0.394
The Genome Aggregation DatabaseGlobalStudy-wide29928G=0.680A=0.319
The Genome Aggregation DatabaseOtherSub302G=0.640A=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.705A=0.295
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.598A=0.402
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs111235040.000146alcohol dependence21314694

eQTL of rs11123504 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:119942886STEAP3ENSG00000115107.15G>A1.6297e-12-38498Cerebellum
Chr2:119942886STEAP3ENSG00000115107.15G>A3.4351e-11-38498Cerebellar_Hemisphere

meQTL of rs11123504 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 )
chr2119900443119900910E067-41976
chr2119987951119988031E06745065
chr2119988281119988629E06745395
chr2119988647119988858E06745761
chr2119987346119987925E06844460
chr2119987951119988031E06845065
chr2119988281119988629E06845395
chr2119900443119900910E069-41976
chr2119969860119969977E06926974
chr2119970070119970124E06927184
chr2119900443119900910E070-41976
chr2119938620119938679E070-4207
chr2119969860119969977E07026974
chr2119970070119970124E07027184
chr2119987346119987925E07044460
chr2119987951119988031E07045065
chr2119902369119902629E071-40257
chr2119969860119969977E07126974
chr2119982730119982964E07139844
chr2119983142119983431E07140256
chr2119987346119987925E07144460
chr2119988281119988629E07145395
chr2119969860119969977E07226974
chr2119970070119970124E07227184
chr2119987346119987925E07244460
chr2119987951119988031E07245065
chr2119988281119988629E07245395
chr2119982730119982964E07339844
chr2119900443119900910E074-41976
chr2119987346119987925E07444460
chr2119987951119988031E07445065
chr2119900443119900910E081-41976
chr2119938620119938679E081-4207
chr2119939320119939383E081-3503
chr2119939461119939758E081-3128
chr2119941373119941439E081-1447
chr2119897447119897517E082-45369
chr2119897682119897732E082-45154
chr2119938620119938679E082-4207
chr2119939320119939383E082-3503
chr2119939461119939758E082-3128










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2119915979119916029E067-26857
chr2119916179119916577E067-26309
chr2119981032119981723E06738146
chr2119981782119981894E06738896
chr2119982036119982187E06739150
chr2119915810119915936E068-26950
chr2119915979119916029E068-26857
chr2119916179119916577E068-26309
chr2119981032119981723E06838146
chr2119981782119981894E06838896
chr2119982036119982187E06839150
chr2119914353119914622E069-28264
chr2119914659119914801E069-28085
chr2119914954119915097E069-27789
chr2119915163119915277E069-27609
chr2119915979119916029E069-26857
chr2119916179119916577E069-26309
chr2119981032119981723E06938146
chr2119981782119981894E06938896
chr2119914954119915097E070-27789
chr2119915163119915277E070-27609
chr2119915810119915936E070-26950
chr2119981032119981723E07038146
chr2119914954119915097E071-27789
chr2119915810119915936E071-26950
chr2119915979119916029E071-26857
chr2119916179119916577E071-26309
chr2119981032119981723E07138146
chr2119914353119914622E072-28264
chr2119914659119914801E072-28085
chr2119914954119915097E072-27789
chr2119915163119915277E072-27609
chr2119915810119915936E072-26950
chr2119915979119916029E072-26857
chr2119916179119916577E072-26309
chr2119981032119981723E07238146
chr2119914954119915097E073-27789
chr2119915163119915277E073-27609
chr2119915810119915936E073-26950
chr2119915979119916029E073-26857
chr2119916179119916577E073-26309
chr2119981032119981723E07338146
chr2119981782119981894E07338896
chr2119982036119982187E07339150
chr2119981032119981723E07438146
chr2119981782119981894E07438896
chr2119982036119982187E07439150
chr2119914659119914801E082-28085
chr2119914954119915097E082-27789
chr2119915163119915277E082-27609
chr2119915810119915936E082-26950
chr2119915979119916029E082-26857
chr2119916179119916577E082-26309
chr2119981032119981723E08238146
chr2119981782119981894E08238896