rs114903983

Homo sapiens
T>C
HSF5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0016 (480/29992,GnomAD)
C=0023 (677/29118,TOPMED)
C=0020 (99/5008,1000G)
chr17:58483499 (GRCh38.p7) (17q22)
CD
GWASdb2
1   publication(s)
See rs on genome
149 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.58483499T>C
GRCh37.p13 chr 17NC_000017.10:g.56560860T>C

Gene: HSF5, heat shock transcription factor 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
HSF5 transcriptNM_001080439.2:c.N/AIntron Variant
HSF5 transcript variant X1XM_011524283.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.926C=0.074
1000GenomesAmericanSub694T=1.000C=0.000
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=1.000C=0.000
1000GenomesGlobalStudy-wide5008T=0.980C=0.020
1000GenomesSouth AsianSub978T=1.000C=0.000
The Genome Aggregation DatabaseAfricanSub8730T=0.945C=0.055
The Genome Aggregation DatabaseAmericanSub838T=1.000C=0.000
The Genome Aggregation DatabaseEast AsianSub1622T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18500T=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29992T=0.984C=0.016
The Genome Aggregation DatabaseOtherSub302T=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.976C=0.023
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs1149039830.000156cocaine dependence23958962

eQTL of rs114903983 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 rs114903983 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 )
chr175656786156567915E0677001
chr175656814256568212E0677282
chr175656830456568348E0677444
chr175656888756569384E0678027
chr175658961656589975E06728756
chr175658998556590062E06729125
chr175659011656590189E06729256
chr175659019156590242E06729331
chr175659025956590442E06729399
chr175659288756592957E06732027
chr175659300756593174E06732147
chr175659319056593366E06732330
chr175659338556593504E06732525
chr175659351256593635E06732652
chr175660229656603187E06741436
chr175660332256603373E06742462
chr175660725156607374E06746391
chr175660743656607530E06746576
chr175660757556608075E06746715
chr175661036956610623E06749509
chr175656706656567715E0686206
chr175656786156567915E0687001
chr175656814256568212E0687282
chr175656830456568348E0687444
chr175658961656589975E06828756
chr175658998556590062E06829125
chr175659011656590189E06829256
chr175659019156590242E06829331
chr175659025956590442E06829399
chr175659288756592957E06832027
chr175659300756593174E06832147
chr175659319056593366E06832330
chr175659338556593504E06832525
chr175659351256593635E06832652
chr175660229656603187E06841436
chr175661036956610623E06849509
chr175656706656567715E0696206
chr175656786156567915E0697001
chr175656814256568212E0697282
chr175656830456568348E0697444
chr175659019156590242E06929331
chr175659025956590442E06929399
chr175659288756592957E06932027
chr175659300756593174E06932147
chr175659319056593366E06932330
chr175659338556593504E06932525
chr175659351256593635E06932652
chr175659908556599225E06938225
chr175659926156599495E06938401
chr175660229656603187E06941436
chr175661036956610623E06949509
chr175656786156567915E0707001
chr175656814256568212E0707282
chr175656830456568348E0707444
chr175657201456572078E07011154
chr175657209156572219E07011231
chr175657233156572425E07011471
chr175658945756589530E07028597
chr175659288756592957E07032027
chr175659300756593174E07032147
chr175659319056593366E07032330
chr175659338556593504E07032525
chr175659351256593635E07032652
chr175656706656567715E0716206
chr175656786156567915E0717001
chr175656814256568212E0717282
chr175656830456568348E0717444
chr175659019156590242E07129331
chr175659025956590442E07129399
chr175659288756592957E07132027
chr175659300756593174E07132147
chr175659319056593366E07132330
chr175659338556593504E07132525
chr175659351256593635E07132652
chr175659717956597848E07136319
chr175659788856597942E07137028
chr175659794456598081E07137084
chr175659810256598213E07137242
chr175659826156598661E07137401
chr175659887156598939E07138011
chr175659908556599225E07138225
chr175659926156599495E07138401
chr175659966456599730E07138804
chr175660109756601228E07140237
chr175660144456601599E07140584
chr175661036956610623E07149509
chr175656706656567715E0726206
chr175656786156567915E0727001
chr175656814256568212E0727282
chr175656830456568348E0727444
chr175658961656589975E07228756
chr175658998556590062E07229125
chr175659011656590189E07229256
chr175659019156590242E07229331
chr175659025956590442E07229399
chr175659810256598213E07237242
chr175659826156598661E07237401
chr175659887156598939E07238011
chr175659908556599225E07238225
chr175659926156599495E07238401
chr175660229656603187E07241436
chr175661036956610623E07249509
chr175656786156567915E0737001
chr175656814256568212E0737282
chr175656830456568348E0737444
chr175656888756569384E0738027
chr175658998556590062E07329125
chr175659011656590189E07329256
chr175659019156590242E07329331
chr175659025956590442E07329399
chr175659717956597848E07336319
chr175659788856597942E07337028
chr175659794456598081E07337084
chr175659810256598213E07337242
chr175659826156598661E07337401
chr175659887156598939E07338011
chr175659908556599225E07338225
chr175659926156599495E07338401
chr175660229656603187E07341436
chr175660332256603373E07342462
chr175660743656607530E07346576
chr175660757556608075E07346715
chr175656706656567715E0746206
chr175656786156567915E0747001
chr175656814256568212E0747282
chr175656830456568348E0747444
chr175659019156590242E07429331
chr175659025956590442E07429399
chr175659338556593504E07432525
chr175659351256593635E07432652
chr175659908556599225E07438225
chr175659926156599495E07438401
chr175660109756601228E07440237
chr175660144456601599E07440584
chr175660229656603187E07441436
chr175660332256603373E07442462
chr175661036956610623E07449509
chr175658945756589530E08128597
chr175658961656589975E08128756
chr175658998556590062E08129125
chr175659011656590189E08129256
chr175659019156590242E08129331
chr175660811756608205E08147257
chr175660831456608374E08147454
chr175659288756592957E08232027
chr175659300756593174E08232147
chr175659319056593366E08232330
chr175659338556593504E08232525
chr175659351256593635E08232652










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr175659367256596758E06732812
chr175659680556597028E06735945
chr175659706756597127E06736207
chr175660839256610129E06747532
chr175659367256596758E06832812
chr175660839256610129E06847532
chr175659367256596758E06932812
chr175660839256610129E06947532
chr175659367256596758E07032812
chr175659680556597028E07035945
chr175660839256610129E07047532
chr175659367256596758E07132812
chr175660839256610129E07147532
chr175659367256596758E07232812
chr175659680556597028E07235945
chr175660839256610129E07247532
chr175659367256596758E07332812
chr175659680556597028E07335945
chr175659706756597127E07336207
chr175660839256610129E07347532
chr175659367256596758E07432812
chr175660839256610129E07447532
chr175659367256596758E08132812
chr175659367256596758E08232812
chr175659680556597028E08235945
chr175660839256610129E08247532