rs72840936

Homo sapiens
G>C
STEAP3 : 500B Downstream Variant
LOC105373581 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0025 (756/29944,GnomAD)
C=0029 (852/29116,TOPMED)
C=0034 (170/5008,1000G)
C=0049 (187/3854,ALSPAC)
C=0049 (182/3708,TWINSUK)
chr2:119266116 (GRCh38.p7) (2q14.2)
CD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.119266116G>C
GRCh37.p13 chr 2NC_000002.11:g.120023692G>C
STEAP3 RefSeqGeneNG_042823.1:g.47309G>C

Gene: STEAP3, STEAP3 metalloreductase(plus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
STEAP3 transcript variant 3NM_001008410.1:c.N/ADownstream Transcript Variant
STEAP3 transcript variant 2NM_018234.2:c.N/ADownstream Transcript Variant
STEAP3 transcript variant 4NM_138637.2:c.N/ADownstream Transcript Variant
STEAP3 transcript variant 1NM_182915.2:c.N/ADownstream Transcript Variant
STEAP3 transcript variant X2XM_006712614.3:c.N/ADownstream Transcript Variant
STEAP3 transcript variant X3XM_006712615.1:c.N/ADownstream Transcript Variant
STEAP3 transcript variant X1XM_011511403.1:c.N/ADownstream Transcript Variant

Gene: LOC105373581, uncharacterized LOC105373581(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373581 transcriptXR_001739666.1:n....XR_001739666.1:n.4110C>GC>GNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.992C=0.008
1000GenomesAmericanSub694G=0.980C=0.020
1000GenomesEast AsianSub1008G=0.985C=0.015
1000GenomesEuropeSub1006G=0.959C=0.041
1000GenomesGlobalStudy-wide5008G=0.966C=0.034
1000GenomesSouth AsianSub978G=0.910C=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.951C=0.049
The Genome Aggregation DatabaseAfricanSub8718G=0.985C=0.015
The Genome Aggregation DatabaseAmericanSub838G=0.990C=0.010
The Genome Aggregation DatabaseEast AsianSub1622G=0.996C=0.004
The Genome Aggregation DatabaseEuropeSub18464G=0.968C=0.031
The Genome Aggregation DatabaseGlobalStudy-wide29944G=0.974C=0.025
The Genome Aggregation DatabaseOtherSub302G=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.970C=0.029
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.951C=0.049
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
rs728409363E-06cocaine dependence23958962

eQTL of rs72840936 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 rs72840936 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 )
chr2119987951119988031E067-35661
chr2119988281119988629E067-35063
chr2119988647119988858E067-34834
chr2119997988119998714E067-24978
chr2120016741120017409E067-6283
chr2120033851120033910E06710159
chr2120039877120040015E06716185
chr2120040063120040126E06716371
chr2120040327120040587E06716635
chr2120040649120040757E06716957
chr2120040795120040979E06717103
chr2120041318120041395E06717626
chr2119987346119987925E068-35767
chr2119987951119988031E068-35661
chr2119988281119988629E068-35063
chr2119997988119998714E068-24978
chr2120010177120011230E068-12462
chr2120016741120017409E068-6283
chr2120034540120034612E06810848
chr2120034646120034721E06810954
chr2120039877120040015E06816185
chr2120040063120040126E06816371
chr2120040327120040587E06816635
chr2120040649120040757E06816957
chr2120040795120040979E06817103
chr2120041318120041395E06817626
chr2120046606120046703E06822914
chr2120046813120046944E06823121
chr2120072965120073141E06849273
chr2120073207120073332E06849515
chr2119997988119998714E069-24978
chr2120013127120013337E069-10355
chr2120013343120013872E069-9820
chr2120016741120017409E069-6283
chr2120039877120040015E06916185
chr2120040063120040126E06916371
chr2120040327120040587E06916635
chr2120041318120041395E06917626
chr2120041427120041983E06917735
chr2120049699120049887E06926007
chr2119987346119987925E070-35767
chr2119987951119988031E070-35661
chr2120012911120012961E070-10731
chr2120013127120013337E070-10355
chr2120013343120013872E070-9820
chr2120014076120014412E070-9280
chr2120014897120015074E070-8618
chr2120015872120016015E070-7677
chr2120018386120018474E070-5218
chr2120018652120018748E070-4944
chr2120018789120018880E070-4812
chr2120018973120019067E070-4625
chr2120033851120033910E07010159
chr2120039877120040015E07016185
chr2120040063120040126E07016371
chr2120040327120040587E07016635
chr2120040649120040757E07016957
chr2120040795120040979E07017103
chr2120041318120041395E07017626
chr2120041427120041983E07017735
chr2120048514120048775E07024822
chr2119982730119982964E071-40728
chr2119983142119983431E071-40261
chr2119987346119987925E071-35767
chr2119988281119988629E071-35063
chr2119997988119998714E071-24978
chr2120013127120013337E071-10355
chr2120013343120013872E071-9820
chr2120013977120014066E071-9626
chr2120014076120014412E071-9280
chr2120016741120017409E071-6283
chr2120039877120040015E07116185
chr2120040063120040126E07116371
chr2120040327120040587E07116635
chr2120040649120040757E07116957
chr2120040795120040979E07117103
chr2120041318120041395E07117626
chr2120049699120049887E07126007
chr2119987346119987925E072-35767
chr2119987951119988031E072-35661
chr2119988281119988629E072-35063
chr2119997988119998714E072-24978
chr2120013343120013872E072-9820
chr2120016741120017409E072-6283
chr2120040327120040587E07216635
chr2120040649120040757E07216957
chr2120040795120040979E07217103
chr2120041318120041395E07217626
chr2120046606120046703E07222914
chr2120046813120046944E07223121
chr2120047371120047440E07223679
chr2120049699120049887E07226007
chr2119982730119982964E073-40728
chr2119997988119998714E073-24978
chr2120016741120017409E073-6283
chr2120039877120040015E07316185
chr2120040063120040126E07316371
chr2120040327120040587E07316635
chr2120041318120041395E07317626
chr2120049699120049887E07326007
chr2119987346119987925E074-35767
chr2119987951119988031E074-35661
chr2119997988119998714E074-24978
chr2120016741120017409E074-6283
chr2120039877120040015E07416185
chr2120040063120040126E07416371
chr2120041318120041395E07417626
chr2119997988119998714E081-24978
chr2120013343120013872E081-9820
chr2120014076120014412E081-9280
chr2120040327120040587E08116635
chr2120040649120040757E08116957
chr2120040795120040979E08117103
chr2119997988119998714E082-24978
chr2120018652120018748E082-4944










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2119981032119981723E067-41969
chr2119981782119981894E067-41798
chr2119982036119982187E067-41505
chr2119981032119981723E068-41969
chr2119981782119981894E068-41798
chr2119982036119982187E068-41505
chr2120063936120064002E06840244
chr2120064359120064469E06840667
chr2120064534120064613E06840842
chr2119981032119981723E069-41969
chr2119981782119981894E069-41798
chr2119981032119981723E070-41969
chr2119981032119981723E071-41969
chr2120063936120064002E07140244
chr2119981032119981723E072-41969
chr2120063936120064002E07240244
chr2120064359120064469E07240667
chr2120064534120064613E07240842
chr2119981032119981723E073-41969
chr2119981782119981894E073-41798
chr2119982036119982187E073-41505
chr2119981032119981723E074-41969
chr2119981782119981894E074-41798
chr2119982036119982187E074-41505
chr2119981032119981723E082-41969
chr2119981782119981894E082-41798