rs6758051

Homo sapiens
T>G
C1QL2 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0390 (11673/29864,GnomAD)
T==0428 (12469/29116,TOPMED)
T==0476 (2385/5008,1000G)
T==0298 (1150/3854,ALSPAC)
T==0288 (1068/3708,TWINSUK)
chr2:119156525 (GRCh38.p7) (2q14.2)
CD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
36 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.119156525T>G
GRCh37.p13 chr 2NC_000002.11:g.119914101T>G

Gene: C1QL2, complement component 1, q subcomponent-like 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
C1QL2 transcriptNM_182528.3:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.591G=0.409
1000GenomesAmericanSub694T=0.270G=0.730
1000GenomesEast AsianSub1008T=0.660G=0.340
1000GenomesEuropeSub1006T=0.326G=0.674
1000GenomesGlobalStudy-wide5008T=0.476G=0.524
1000GenomesSouth AsianSub978T=0.430G=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.298G=0.702
The Genome Aggregation DatabaseAfricanSub8698T=0.534G=0.466
The Genome Aggregation DatabaseAmericanSub836T=0.280G=0.720
The Genome Aggregation DatabaseEast AsianSub1614T=0.636G=0.364
The Genome Aggregation DatabaseEuropeSub18416T=0.306G=0.693
The Genome Aggregation DatabaseGlobalStudy-wide29864T=0.390G=0.609
The Genome Aggregation DatabaseOtherSub300T=0.440G=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.428G=0.571
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.288G=0.712
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
rs67580515.1E-06cocaine dependence23958962

eQTL of rs6758051 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 rs6758051 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 )
chr2119900443119900910E067-13191
chr2119900443119900910E069-13191
chr2119875909119876048E070-38053
chr2119876648119876856E070-37245
chr2119876894119876962E070-37139
chr2119877091119877197E070-36904
chr2119881052119881172E070-32929
chr2119892743119892793E070-21308
chr2119900443119900910E070-13191
chr2119938620119938679E07024519
chr2119902369119902629E071-11472
chr2119900443119900910E074-13191
chr2119900443119900910E081-13191
chr2119938620119938679E08124519
chr2119939320119939383E08125219
chr2119939461119939758E08125360
chr2119941373119941439E08127272
chr2119877091119877197E082-36904
chr2119897447119897517E082-16584
chr2119897682119897732E082-16369
chr2119938620119938679E08224519
chr2119939320119939383E08225219
chr2119939461119939758E08225360







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2119915979119916029E0671878
chr2119916179119916577E0672078
chr2119915810119915936E0681709
chr2119915979119916029E0681878
chr2119916179119916577E0682078
chr2119914353119914622E069252
chr2119914659119914801E069558
chr2119914954119915097E069853
chr2119915163119915277E0691062
chr2119915979119916029E0691878
chr2119916179119916577E0692078
chr2119914954119915097E070853
chr2119915163119915277E0701062
chr2119915810119915936E0701709
chr2119914954119915097E071853
chr2119915810119915936E0711709
chr2119915979119916029E0711878
chr2119916179119916577E0712078
chr2119914353119914622E072252
chr2119914659119914801E072558
chr2119914954119915097E072853
chr2119915163119915277E0721062
chr2119915810119915936E0721709
chr2119915979119916029E0721878
chr2119916179119916577E0722078
chr2119914954119915097E073853
chr2119915163119915277E0731062
chr2119915810119915936E0731709
chr2119915979119916029E0731878
chr2119916179119916577E0732078
chr2119914659119914801E082558
chr2119914954119915097E082853
chr2119915163119915277E0821062
chr2119915810119915936E0821709
chr2119915979119916029E0821878
chr2119916179119916577E0822078