rs4943157

Homo sapiens
T>C
HSPH1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0369 (11033/29896,GnomAD)
C=0376 (10958/29116,TOPMED)
C=0226 (1131/5008,1000G)
C=0459 (1768/3854,ALSPAC)
C=0470 (1741/3708,TWINSUK)
chr13:31152041 (GRCh38.p7) (13q12.3)
AD
GWASdb2
1   publication(s)
See rs on genome
40 Enhancers around
28 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.31152041T>C
GRCh37.p13 chr 13NC_000013.10:g.31726178T>C

Gene: HSPH1, heat shock protein family H (Hsp110) member 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
HSPH1 transcript variant 2NM_001286503.1:c.N/AIntron Variant
HSPH1 transcript variant 3NM_001286504.1:c.N/AIntron Variant
HSPH1 transcript variant 4NM_001286505.1:c.N/AIntron Variant
HSPH1 transcript variant 1NM_006644.3:c.N/AIntron Variant
HSPH1 transcript variant X3XM_005266236.1:c.N/AIntron Variant
HSPH1 transcript variant X1XM_011534887.2:c.N/AIntron Variant
HSPH1 transcript variant X6XM_011534888.1:c.N/AIntron Variant
HSPH1 transcript variant X2XM_017020361.1:c.N/AIntron Variant
HSPH1 transcript variant X4XM_017020362.1:c.N/AIntron Variant
HSPH1 transcript variant X5XM_017020363.1:c.N/AIntron Variant
HSPH1 transcript variant X7XM_017020364.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.754C=0.246
1000GenomesAmericanSub694T=0.730C=0.270
1000GenomesEast AsianSub1008T=0.989C=0.011
1000GenomesEuropeSub1006T=0.537C=0.463
1000GenomesGlobalStudy-wide5008T=0.774C=0.226
1000GenomesSouth AsianSub978T=0.860C=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.541C=0.459
The Genome Aggregation DatabaseAfricanSub8700T=0.728C=0.272
The Genome Aggregation DatabaseAmericanSub836T=0.730C=0.270
The Genome Aggregation DatabaseEast AsianSub1616T=0.987C=0.013
The Genome Aggregation DatabaseEuropeSub18442T=0.549C=0.450
The Genome Aggregation DatabaseGlobalStudy-wide29896T=0.631C=0.369
The Genome Aggregation DatabaseOtherSub302T=0.630C=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.623C=0.376
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.530C=0.470
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
rs49431570.000656alcohol dependence21314694

eQTL of rs4943157 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 rs4943157 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 )
chr133173753031737609E06711352
chr133173761331737637E06711435
chr133173764431737830E06711466
chr133176648331766762E06740305
chr133173753031737609E06811352
chr133173761331737637E06811435
chr133173764431737830E06811466
chr133173787731737985E06811699
chr133175954931759680E06833371
chr133175977931759872E06833601
chr133176680131767003E06840623
chr133176919131769261E06843013
chr133176933631769408E06843158
chr133173753031737609E06911352
chr133176648331766762E06940305
chr133175928131759455E07033103
chr133175954931759680E07033371
chr133175977931759872E07033601
chr133176648331766762E07040305
chr133177319531773405E07047017
chr133177604531776128E07049867
chr133177604531776128E07149867
chr133175928131759455E07233103
chr133175954931759680E07233371
chr133175977931759872E07233601
chr133176648331766762E07240305
chr133176680131767003E07240623
chr133173753031737609E07411352
chr133173761331737637E07411435
chr133173764431737830E07411466
chr133168502031685108E081-41070
chr133168538831685525E081-40653
chr133168603731686094E081-40084
chr133168615331686323E081-39855
chr133173334731733476E0817169
chr133173753031737609E08111352
chr133173761331737637E08111435
chr133173764431737830E08111466
chr133175954931759680E08133371
chr133175977931759872E08133601








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr133173457231734669E0678394
chr133173470331737465E0678525
chr133177351831776044E06747340
chr133173457231734669E0688394
chr133173470331737465E0688525
chr133177351831776044E06847340
chr133173457231734669E0698394
chr133173470331737465E0698525
chr133177351831776044E06947340
chr133173457231734669E0708394
chr133173470331737465E0708525
chr133177351831776044E07047340
chr133173457231734669E0718394
chr133173470331737465E0718525
chr133177351831776044E07147340
chr133173457231734669E0728394
chr133173470331737465E0728525
chr133177351831776044E07247340
chr133173457231734669E0738394
chr133173470331737465E0738525
chr133177351831776044E07347340
chr133173457231734669E0748394
chr133173470331737465E0748525
chr133177351831776044E07447340
chr133173457231734669E0818394
chr133173457231734669E0828394
chr133173470331737465E0828525
chr133177351831776044E08247340