rs6067212

Homo sapiens
C>T
LOC105372652 : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0181 (5371/29588,GnomAD)
T=0179 (5223/29118,TOPMED)
T=0185 (924/5008,1000G)
T=0139 (534/3854,ALSPAC)
T=0136 (505/3708,TWINSUK)
chr20:49764513 (GRCh38.p7) (20q13.13)
AD
GWASCatalog
1   publication(s)
See rs on genome
56 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.49764513C>T
GRCh37.p13 chr 20NC_000020.10:g.48381050C>T

Gene: LOC105372652, uncharacterized LOC105372652(minus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105372652 transcript variant X1XR_936823.2:n.N/ADownstream Transcript Variant
LOC105372652 transcript variant X2XR_936825.2:n.N/ADownstream Transcript Variant
LOC105372652 transcript variant X3XR_001754661.1:n.N/AN/A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.711T=0.289
1000GenomesAmericanSub694C=0.840T=0.160
1000GenomesEast AsianSub1008C=0.898T=0.102
1000GenomesEuropeSub1006C=0.875T=0.125
1000GenomesGlobalStudy-wide5008C=0.815T=0.185
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.861T=0.139
The Genome Aggregation DatabaseAfricanSub8656C=0.752T=0.248
The Genome Aggregation DatabaseAmericanSub826C=0.850T=0.150
The Genome Aggregation DatabaseEast AsianSub1616C=0.887T=0.113
The Genome Aggregation DatabaseEuropeSub18188C=0.842T=0.158
The Genome Aggregation DatabaseGlobalStudy-wide29588C=0.818T=0.181
The Genome Aggregation DatabaseOtherSub302C=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.820T=0.179
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.864T=0.136
PMID Title Author Journal
29460428Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.Gelernter JAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs60672123E-06alcohol dependence29460428

eQTL of rs6067212 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 rs6067212 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 )
chr204833127848331570E067-49480
chr204836421648364994E067-16056
chr204837513248375677E067-5373
chr204837569848375748E067-5302
chr204837578448375874E067-5176
chr204838866548388715E0677615
chr204838873848389364E0677688
chr204833127848331570E068-49480
chr204836421648364994E068-16056
chr204836705348367592E068-13458
chr204838462248385848E0683572
chr204838873848389364E0687688
chr204839259348393196E06811543
chr204833127848331570E069-49480
chr204836421648364994E069-16056
chr204837513248375677E069-5373
chr204837569848375748E069-5302
chr204837578448375874E069-5176
chr204838866548388715E0697615
chr204838873848389364E0697688
chr204833127848331570E071-49480
chr204836421648364994E071-16056
chr204838825848388316E0717208
chr204838832448388436E0717274
chr204839259348393196E07111543
chr204833127848331570E072-49480
chr204836421648364994E072-16056
chr204838866548388715E0727615
chr204838873848389364E0727688
chr204839235548392501E07211305
chr204839259348393196E07211543
chr204833127848331570E073-49480
chr204836421648364994E073-16056
chr204838873848389364E0737688
chr204839259348393196E07311543
chr204834104848341889E074-39161
chr204836400948364137E074-16913
chr204836421648364994E074-16056
chr204838462248385848E0743572
chr204838832448388436E0747274
chr204838866548388715E0747615
chr204838873848389364E0747688
chr204839146248392333E07410412
chr204839235548392501E07411305
chr204839259348393196E07411543
chr204838264548383100E0811595
chr204838322848383301E0812178
chr204838335748383407E0812307
chr204838347448383538E0812424
chr204838866548388715E0817615
chr204838873848389364E0817688
chr204839976948399869E08118719
chr204839994648400437E08118896
chr204836134048361529E082-19521
chr204836157848361633E082-19417
chr204838873848389364E0827688









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr204842821748430084E06747167
chr204842821748430084E06847167
chr204842821748430084E06947167
chr204842821748430084E07047167
chr204842821748430084E07147167
chr204842821748430084E07247167
chr204842821748430084E07347167
chr204842821748430084E07447167
chr204842821748430084E08147167
chr204842821748430084E08247167