rs4861386

Homo sapiens
A>C
UCHL1-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0430 (12867/29926,GnomAD)
A==0434 (12647/29118,TOPMED)
A==0407 (2040/5008,1000G)
A==0428 (1651/3854,ALSPAC)
A==0421 (1560/3708,TWINSUK)
chr4:41252937 (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.41252937A>C
GRCh37.p13 chr 4NC_000004.11:g.41254954A>C
UCHL1 RefSeqGeneNG_012931.1:g.1057A>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
1000GenomesAfricanSub1322A=0.504C=0.496
1000GenomesAmericanSub694A=0.370C=0.630
1000GenomesEast AsianSub1008A=0.195C=0.805
1000GenomesEuropeSub1006A=0.390C=0.610
1000GenomesGlobalStudy-wide5008A=0.407C=0.593
1000GenomesSouth AsianSub978A=0.540C=0.460
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.428C=0.572
The Genome Aggregation DatabaseAfricanSub8706A=0.506C=0.494
The Genome Aggregation DatabaseAmericanSub836A=0.310C=0.690
The Genome Aggregation DatabaseEast AsianSub1620A=0.234C=0.766
The Genome Aggregation DatabaseEuropeSub18462A=0.417C=0.582
The Genome Aggregation DatabaseGlobalStudy-wide29926A=0.430C=0.570
The Genome Aggregation DatabaseOtherSub302A=0.410C=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.434C=0.565
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.421C=0.579
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
rs48613860.000161cocaine dependence,EA23958962
rs48613860.000934cocaine dependence23958962

eQTL of rs4861386 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 rs4861386 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 )
chr44120521941205514E067-49440
chr44120570841205813E067-49141
chr44120596041206147E067-48807
chr44120662641206974E067-47980
chr44120731941207489E067-47465
chr44120784641207896E067-47058
chr44120792941208008E067-46946
chr44120816541208238E067-46716
chr44120849241208564E067-46390
chr44120933141209566E067-45388
chr44120969441209854E067-45100
chr44120998241210061E067-44893
chr44121183041211880E067-43074
chr44121194741212059E067-42895
chr44121249041212540E067-42414
chr44120521941205514E068-49440
chr44120570841205813E068-49141
chr44120596041206147E068-48807
chr44120662641206974E068-47980
chr44120731941207489E068-47465
chr44120784641207896E068-47058
chr44120792941208008E068-46946
chr44120816541208238E068-46716
chr44121920341219415E068-35539
chr44121945741219511E068-35443
chr44120521941205514E069-49440
chr44120570841205813E069-49141
chr44120596041206147E069-48807
chr44120662641206974E069-47980
chr44120731941207489E069-47465
chr44120784641207896E069-47058
chr44120792941208008E069-46946
chr44120816541208238E069-46716
chr44120849241208564E069-46390
chr44120933141209566E069-45388
chr44121107141211171E069-43783
chr44121122741211778E069-43176
chr44121183041211880E069-43074
chr44121194741212059E069-42895
chr44121249041212540E069-42414
chr44121411641214170E069-40784
chr44120521941205514E071-49440
chr44120570841205813E071-49141
chr44120596041206147E071-48807
chr44120662641206974E071-47980
chr44120731941207489E071-47465
chr44120784641207896E071-47058
chr44120792941208008E071-46946
chr44120816541208238E071-46716
chr44120849241208564E071-46390
chr44120933141209566E071-45388
chr44120969441209854E071-45100
chr44120998241210061E071-44893
chr44121411641214170E071-40784
chr44128304041283515E07128086
chr44120521941205514E072-49440
chr44120570841205813E072-49141
chr44120596041206147E072-48807
chr44120662641206974E072-47980
chr44120731941207489E072-47465
chr44120784641207896E072-47058
chr44120792941208008E072-46946
chr44120816541208238E072-46716
chr44120849241208564E072-46390
chr44121122741211778E072-43176
chr44121183041211880E072-43074
chr44121194741212059E072-42895
chr44121411641214170E072-40784
chr44120570841205813E073-49141
chr44120596041206147E073-48807
chr44120662641206974E073-47980
chr44120731941207489E073-47465
chr44120784641207896E073-47058
chr44120792941208008E073-46946
chr44120816541208238E073-46716
chr44120849241208564E073-46390
chr44120933141209566E073-45388
chr44120969441209854E073-45100
chr44120998241210061E073-44893
chr44120570841205813E074-49141
chr44120596041206147E074-48807
chr44120662641206974E074-47980
chr44120731941207489E074-47465
chr44120784641207896E074-47058
chr44120792941208008E074-46946
chr44120816541208238E074-46716
chr44120849241208564E074-46390
chr44121122741211778E074-43176
chr44121183041211880E074-43074
chr44121194741212059E074-42895
chr44121411641214170E074-40784
chr44128304041283515E07428086
chr44121920341219415E081-35539
chr44128304041283515E08128086








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr44121457141215029E067-39925
chr44121520341215627E067-39327
chr44121565641217549E067-37405
chr44121767841219189E067-35765
chr44125794941258187E0672995
chr44125821941260231E0673265
chr44126027341260387E0675319
chr44126051541260673E0675561
chr44121457141215029E068-39925
chr44121520341215627E068-39327
chr44121565641217549E068-37405
chr44121767841219189E068-35765
chr44125794941258187E0682995
chr44125821941260231E0683265
chr44126027341260387E0685319
chr44126051541260673E0685561
chr44121457141215029E069-39925
chr44121520341215627E069-39327
chr44121565641217549E069-37405
chr44121767841219189E069-35765
chr44125794941258187E0692995
chr44125821941260231E0693265
chr44126027341260387E0695319
chr44126051541260673E0695561
chr44121565641217549E070-37405
chr44121767841219189E070-35765
chr44125794941258187E0702995
chr44125821941260231E0703265
chr44126027341260387E0705319
chr44126051541260673E0705561
chr44121457141215029E071-39925
chr44121520341215627E071-39327
chr44121565641217549E071-37405
chr44121767841219189E071-35765
chr44125821941260231E0713265
chr44126027341260387E0715319
chr44126051541260673E0715561
chr44121457141215029E072-39925
chr44121520341215627E072-39327
chr44121565641217549E072-37405
chr44121767841219189E072-35765
chr44125794941258187E0722995
chr44125821941260231E0723265
chr44126027341260387E0725319
chr44126051541260673E0725561
chr44121457141215029E073-39925
chr44121520341215627E073-39327
chr44121565641217549E073-37405
chr44121767841219189E073-35765
chr44125794941258187E0732995
chr44125821941260231E0733265
chr44126027341260387E0735319
chr44126051541260673E0735561
chr44121457141215029E074-39925
chr44121520341215627E074-39327
chr44121565641217549E074-37405
chr44121767841219189E074-35765
chr44125821941260231E0743265
chr44121457141215029E081-39925
chr44121520341215627E081-39327
chr44125794941258187E0812995
chr44125821941260231E0813265
chr44126027341260387E0815319
chr44126051541260673E0815561
chr44121457141215029E082-39925
chr44121520341215627E082-39327
chr44121565641217549E082-37405
chr44121767841219189E082-35765
chr44125794941258187E0822995
chr44125821941260231E0823265
chr44126027341260387E0825319
chr44126051541260673E0825561