rs7693827

Homo sapiens
T>C
UCHL1-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0395 (11846/29936,GnomAD)
T==0383 (11169/29118,TOPMED)
T==0373 (1866/5008,1000G)
T==0428 (1649/3854,ALSPAC)
T==0420 (1558/3708,TWINSUK)
chr4:41252845 (GRCh38.p7) (4p13)
CD
GWASdb2
1   publication(s)
See rs on genome
94 Enhancers around
72 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.41252845T>C
GRCh37.p13 chr 4NC_000004.11:g.41254862T>C
UCHL1 RefSeqGeneNG_012931.1:g.965T>C

Gene: UCHL1-AS1, UCHL1 antisense RNA 1 (head to head)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
UCHL1-AS1 transcriptNR_102709.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.379C=0.621
1000GenomesAmericanSub694T=0.370C=0.630
1000GenomesEast AsianSub1008T=0.195C=0.805
1000GenomesEuropeSub1006T=0.390C=0.610
1000GenomesGlobalStudy-wide5008T=0.373C=0.627
1000GenomesSouth AsianSub978T=0.530C=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.428C=0.572
The Genome Aggregation DatabaseAfricanSub8714T=0.390C=0.610
The Genome Aggregation DatabaseAmericanSub838T=0.300C=0.700
The Genome Aggregation DatabaseEast AsianSub1614T=0.232C=0.768
The Genome Aggregation DatabaseEuropeSub18468T=0.416C=0.583
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.395C=0.604
The Genome Aggregation DatabaseOtherSub302T=0.410C=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.383C=0.616
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.420C=0.580
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
rs76938270.000246cocaine dependence23958962

eQTL of rs7693827 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 rs7693827 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 )
chr44120521941205514E067-49348
chr44120570841205813E067-49049
chr44120596041206147E067-48715
chr44120662641206974E067-47888
chr44120731941207489E067-47373
chr44120784641207896E067-46966
chr44120792941208008E067-46854
chr44120816541208238E067-46624
chr44120849241208564E067-46298
chr44120933141209566E067-45296
chr44120969441209854E067-45008
chr44120998241210061E067-44801
chr44121183041211880E067-42982
chr44121194741212059E067-42803
chr44121249041212540E067-42322
chr44120521941205514E068-49348
chr44120570841205813E068-49049
chr44120596041206147E068-48715
chr44120662641206974E068-47888
chr44120731941207489E068-47373
chr44120784641207896E068-46966
chr44120792941208008E068-46854
chr44120816541208238E068-46624
chr44121920341219415E068-35447
chr44121945741219511E068-35351
chr44120521941205514E069-49348
chr44120570841205813E069-49049
chr44120596041206147E069-48715
chr44120662641206974E069-47888
chr44120731941207489E069-47373
chr44120784641207896E069-46966
chr44120792941208008E069-46854
chr44120816541208238E069-46624
chr44120849241208564E069-46298
chr44120933141209566E069-45296
chr44121107141211171E069-43691
chr44121122741211778E069-43084
chr44121183041211880E069-42982
chr44121194741212059E069-42803
chr44121249041212540E069-42322
chr44121411641214170E069-40692
chr44120521941205514E071-49348
chr44120570841205813E071-49049
chr44120596041206147E071-48715
chr44120662641206974E071-47888
chr44120731941207489E071-47373
chr44120784641207896E071-46966
chr44120792941208008E071-46854
chr44120816541208238E071-46624
chr44120849241208564E071-46298
chr44120933141209566E071-45296
chr44120969441209854E071-45008
chr44120998241210061E071-44801
chr44121411641214170E071-40692
chr44128304041283515E07128178
chr44120521941205514E072-49348
chr44120570841205813E072-49049
chr44120596041206147E072-48715
chr44120662641206974E072-47888
chr44120731941207489E072-47373
chr44120784641207896E072-46966
chr44120792941208008E072-46854
chr44120816541208238E072-46624
chr44120849241208564E072-46298
chr44121122741211778E072-43084
chr44121183041211880E072-42982
chr44121194741212059E072-42803
chr44121411641214170E072-40692
chr44120570841205813E073-49049
chr44120596041206147E073-48715
chr44120662641206974E073-47888
chr44120731941207489E073-47373
chr44120784641207896E073-46966
chr44120792941208008E073-46854
chr44120816541208238E073-46624
chr44120849241208564E073-46298
chr44120933141209566E073-45296
chr44120969441209854E073-45008
chr44120998241210061E073-44801
chr44120570841205813E074-49049
chr44120596041206147E074-48715
chr44120662641206974E074-47888
chr44120731941207489E074-47373
chr44120784641207896E074-46966
chr44120792941208008E074-46854
chr44120816541208238E074-46624
chr44120849241208564E074-46298
chr44121122741211778E074-43084
chr44121183041211880E074-42982
chr44121194741212059E074-42803
chr44121411641214170E074-40692
chr44128304041283515E07428178
chr44121920341219415E081-35447
chr44128304041283515E08128178








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr44121457141215029E067-39833
chr44121520341215627E067-39235
chr44121565641217549E067-37313
chr44121767841219189E067-35673
chr44125794941258187E0673087
chr44125821941260231E0673357
chr44126027341260387E0675411
chr44126051541260673E0675653
chr44121457141215029E068-39833
chr44121520341215627E068-39235
chr44121565641217549E068-37313
chr44121767841219189E068-35673
chr44125794941258187E0683087
chr44125821941260231E0683357
chr44126027341260387E0685411
chr44126051541260673E0685653
chr44121457141215029E069-39833
chr44121520341215627E069-39235
chr44121565641217549E069-37313
chr44121767841219189E069-35673
chr44125794941258187E0693087
chr44125821941260231E0693357
chr44126027341260387E0695411
chr44126051541260673E0695653
chr44121565641217549E070-37313
chr44121767841219189E070-35673
chr44125794941258187E0703087
chr44125821941260231E0703357
chr44126027341260387E0705411
chr44126051541260673E0705653
chr44121457141215029E071-39833
chr44121520341215627E071-39235
chr44121565641217549E071-37313
chr44121767841219189E071-35673
chr44125821941260231E0713357
chr44126027341260387E0715411
chr44126051541260673E0715653
chr44121457141215029E072-39833
chr44121520341215627E072-39235
chr44121565641217549E072-37313
chr44121767841219189E072-35673
chr44125794941258187E0723087
chr44125821941260231E0723357
chr44126027341260387E0725411
chr44126051541260673E0725653
chr44121457141215029E073-39833
chr44121520341215627E073-39235
chr44121565641217549E073-37313
chr44121767841219189E073-35673
chr44125794941258187E0733087
chr44125821941260231E0733357
chr44126027341260387E0735411
chr44126051541260673E0735653
chr44121457141215029E074-39833
chr44121520341215627E074-39235
chr44121565641217549E074-37313
chr44121767841219189E074-35673
chr44125821941260231E0743357
chr44121457141215029E081-39833
chr44121520341215627E081-39235
chr44125794941258187E0813087
chr44125821941260231E0813357
chr44126027341260387E0815411
chr44126051541260673E0815653
chr44121457141215029E082-39833
chr44121520341215627E082-39235
chr44121565641217549E082-37313
chr44121767841219189E082-35673
chr44125794941258187E0823087
chr44125821941260231E0823357
chr44126027341260387E0825411
chr44126051541260673E0825653