rs443137

Homo sapiens
G>A
HRH1 : Intron Variant
LOC102723663 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0298 (8911/29900,GnomAD)
A=0245 (7138/29118,TOPMED)
A=0217 (1088/5008,1000G)
A=0388 (1497/3854,ALSPAC)
A=0382 (1417/3708,TWINSUK)
chr3:11212035 (GRCh38.p7) (3p25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
62 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.11212035G>A
GRCh37.p13 chr 3NC_000003.11:g.11253721G>A

Gene: HRH1, histamine receptor H1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
HRH1 transcript variant 2NM_001098212.1:c.N/AIntron Variant
HRH1 transcript variant 1NM_001098213.1:c.N/AIntron Variant
HRH1 transcript variant 4NM_000861.3:c.N/AGenic Upstream Transcript Variant
HRH1 transcript variant 3NM_001098211.1:c.N/AGenic Upstream Transcript Variant
HRH1 transcript variant X3XM_011533653.2:c.N/AIntron Variant
HRH1 transcript variant X4XM_017006284.1:c.N/AIntron Variant
HRH1 transcript variant X1XM_011533652.1:c.N/AGenic Upstream Transcript Variant
HRH1 transcript variant X2XM_017006283.1:c.N/AGenic Upstream Transcript Variant

Gene: LOC102723663, uncharacterized LOC102723663(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC102723663 transcript variant X1XR_001740595.1:n.N/AIntron Variant
LOC102723663 transcript variant X2XR_001740596.1:n.N/AIntron Variant
LOC102723663 transcript variant X3XR_001740597.1:n.N/AIntron Variant
LOC102723663 transcript variant X4XR_001740598.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.936A=0.064
1000GenomesAmericanSub694G=0.790A=0.210
1000GenomesEast AsianSub1008G=0.628A=0.372
1000GenomesEuropeSub1006G=0.643A=0.357
1000GenomesGlobalStudy-wide5008G=0.783A=0.217
1000GenomesSouth AsianSub978G=0.870A=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.612A=0.388
The Genome Aggregation DatabaseAfricanSub8700G=0.881A=0.119
The Genome Aggregation DatabaseAmericanSub838G=0.760A=0.240
The Genome Aggregation DatabaseEast AsianSub1608G=0.661A=0.339
The Genome Aggregation DatabaseEuropeSub18452G=0.618A=0.381
The Genome Aggregation DatabaseGlobalStudy-wide29900G=0.702A=0.298
The Genome Aggregation DatabaseOtherSub302G=0.740A=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.754A=0.245
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.618A=0.382
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs4431371.8E-05alcohol dependence21703634

eQTL of rs443137 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 rs443137 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 )
chr31123679611237228E067-16493
chr31123727011237366E067-16355
chr31123750611238046E067-15675
chr31124289711243158E067-10563
chr31124652611246983E067-6738
chr31121101211211103E068-42618
chr31121127111211451E068-42270
chr31123679611237228E068-16493
chr31123727011237366E068-16355
chr31123750611238046E068-15675
chr31121182011212119E069-41602
chr31122521611225324E069-28397
chr31122594411225994E069-27727
chr31123679611237228E069-16493
chr31123727011237366E069-16355
chr31124289711243158E069-10563
chr31124328411243548E069-10173
chr31124652611246983E069-6738
chr31125320811253299E069-422
chr31125337311253552E069-169
chr31124289711243158E070-10563
chr31124328411243548E070-10173
chr31124356211243671E070-10050
chr31124652611246983E070-6738
chr31125292211253110E070-611
chr31125320811253299E070-422
chr31125337311253552E070-169
chr31120675111206801E071-46920
chr31122719011228285E071-25436
chr31123679611237228E071-16493
chr31123727011237366E071-16355
chr31124289711243158E071-10563
chr31124328411243548E071-10173
chr31120675111206801E072-46920
chr31120725711207551E072-46170
chr31121101211211103E072-42618
chr31121127111211451E072-42270
chr31122719011228285E072-25436
chr31123679611237228E072-16493
chr31123727011237366E072-16355
chr31123750611238046E072-15675
chr31124652611246983E072-6738
chr31120639011206631E073-47090
chr31121060511210665E073-43056
chr31121101211211103E073-42618
chr31121127111211451E073-42270
chr31121182011212119E073-41602
chr31122521611225324E073-28397
chr31122719011228285E073-25436
chr31123679611237228E073-16493
chr31123727011237366E073-16355
chr31123750611238046E073-15675
chr31124289711243158E073-10563
chr31124652611246983E073-6738
chr31125320811253299E073-422
chr31125337311253552E073-169
chr31120940411209510E074-44211
chr31123679611237228E074-16493
chr31123727011237366E074-16355
chr31123750611238046E074-15675
chr31124652611246983E081-6738
chr31124652611246983E082-6738