rs6431476

Homo sapiens
T>C
LOC105373947 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0307 (9209/29942,GnomAD)
C=0395 (11508/29118,TOPMED)
C=0366 (1831/5008,1000G)
C=0210 (808/3854,ALSPAC)
C=0194 (721/3708,TWINSUK)
chr2:236609294 (GRCh38.p7) (2q37.3)
AD
GWASdb2
1   publication(s)
See rs on genome
122 Enhancers around
45 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.236609294T>C
GRCh37.p13 chr 2NC_000002.11:g.237517937T>C

Gene: LOC105373947, uncharacterized LOC105373947(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373947 transcript variant X1XR_924020.2:n.172...XR_924020.2:n.1723T>CT>CNon Coding Transcript Variant
LOC105373947 transcript variant X2XR_924021.2:n.113...XR_924021.2:n.1138T>CT>CNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.290C=0.710
1000GenomesAmericanSub694T=0.830C=0.170
1000GenomesEast AsianSub1008T=0.790C=0.210
1000GenomesEuropeSub1006T=0.786C=0.214
1000GenomesGlobalStudy-wide5008T=0.634C=0.366
1000GenomesSouth AsianSub978T=0.640C=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.790C=0.210
The Genome Aggregation DatabaseAfricanSub8700T=0.365C=0.635
The Genome Aggregation DatabaseAmericanSub838T=0.830C=0.170
The Genome Aggregation DatabaseEast AsianSub1618T=0.776C=0.224
The Genome Aggregation DatabaseEuropeSub18484T=0.831C=0.168
The Genome Aggregation DatabaseGlobalStudy-wide29942T=0.692C=0.307
The Genome Aggregation DatabaseOtherSub302T=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.604C=0.395
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.806C=0.194
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs64314760.00000114alcohol dependence23089632
rs64314760.00000392alcohol dependence23089632

eQTL of rs6431476 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 rs6431476 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 )
chr2237481042237481559E067-36378
chr2237481570237482025E067-35912
chr2237487622237487975E067-29962
chr2237488021237488075E067-29862
chr2237488238237488418E067-29519
chr2237488500237488907E067-29030
chr2237538984237539374E06721047
chr2237468059237468109E068-49828
chr2237484754237485097E068-32840
chr2237485162237485354E068-32583
chr2237485667237485904E068-32033
chr2237486488237487091E068-30846
chr2237522085237522176E0684148
chr2237534685237534740E06816748
chr2237538984237539374E06821047
chr2237539431237539520E06821494
chr2237539626237539827E06821689
chr2237487622237487975E069-29962
chr2237488021237488075E069-29862
chr2237488238237488418E069-29519
chr2237488500237488907E069-29030
chr2237538984237539374E06921047
chr2237539431237539520E06921494
chr2237539626237539827E06921689
chr2237539863237540345E06921926
chr2237540358237540459E06922421
chr2237485162237485354E070-32583
chr2237485667237485904E070-32033
chr2237524722237525153E0706785
chr2237525341237525551E0707404
chr2237525752237526482E0707815
chr2237526554237526634E0708617
chr2237534685237534740E07016748
chr2237534920237535000E07016983
chr2237539626237539827E07021689
chr2237539863237540345E07021926
chr2237482579237482754E071-35183
chr2237482791237482927E071-35010
chr2237484754237485097E071-32840
chr2237485162237485354E071-32583
chr2237485667237485904E071-32033
chr2237487273237487328E071-30609
chr2237487622237487975E071-29962
chr2237488021237488075E071-29862
chr2237488238237488418E071-29519
chr2237488500237488907E071-29030
chr2237521857237521932E0713920
chr2237522085237522176E0714148
chr2237522433237522641E0714496
chr2237534373237534518E07116436
chr2237538984237539374E07121047
chr2237539431237539520E07121494
chr2237481570237482025E072-35912
chr2237482137237482275E072-35662
chr2237482332237482520E072-35417
chr2237482579237482754E072-35183
chr2237487273237487328E072-30609
chr2237487622237487975E072-29962
chr2237488021237488075E072-29862
chr2237488238237488418E072-29519
chr2237488500237488907E072-29030
chr2237490341237490483E072-27454
chr2237521857237521932E0723920
chr2237522085237522176E0724148
chr2237522433237522641E0724496
chr2237534373237534518E07216436
chr2237538984237539374E07221047
chr2237539431237539520E07221494
chr2237539626237539827E07221689
chr2237539863237540345E07221926
chr2237540358237540459E07222421
chr2237481570237482025E073-35912
chr2237482137237482275E073-35662
chr2237482332237482520E073-35417
chr2237487273237487328E073-30609
chr2237488021237488075E074-29862
chr2237488238237488418E074-29519
chr2237488500237488907E074-29030
chr2237521857237521932E0743920
chr2237522085237522176E0744148
chr2237522433237522641E0744496
chr2237534373237534518E07416436
chr2237538984237539374E07421047
chr2237539431237539520E07421494
chr2237539626237539827E07421689
chr2237539863237540345E07421926
chr2237540358237540459E07422421
chr2237483169237483758E081-34179
chr2237483759237483822E081-34115
chr2237484300237484542E081-33395
chr2237484754237485097E081-32840
chr2237485162237485354E081-32583
chr2237488238237488418E081-29519
chr2237488500237488907E081-29030
chr2237497942237498290E081-19647
chr2237521497237521694E0813560
chr2237521857237521932E0813920
chr2237522085237522176E0814148
chr2237522433237522641E0814496
chr2237523023237523127E0815086
chr2237523281237523441E0815344
chr2237523633237523683E0815696
chr2237524722237525153E0816785
chr2237525341237525551E0817404
chr2237525752237526482E0817815
chr2237526554237526634E0818617
chr2237538984237539374E08121047
chr2237539431237539520E08121494
chr2237539626237539827E08121689
chr2237539863237540345E08121926
chr2237540358237540459E08122421
chr2237496250237496385E082-21552
chr2237521497237521694E0823560
chr2237521857237521932E0823920
chr2237522085237522176E0824148
chr2237522433237522641E0824496
chr2237523023237523127E0825086
chr2237523281237523441E0825344
chr2237523633237523683E0825696
chr2237525341237525551E0827404
chr2237525752237526482E0827815
chr2237540358237540459E08222421










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2237476609237479749E067-38188
chr2237479804237480012E067-37925
chr2237480080237480193E067-37744
chr2237480285237480401E067-37536
chr2237476012237476545E068-41392
chr2237476609237479749E068-38188
chr2237479804237480012E068-37925
chr2237480080237480193E068-37744
chr2237480285237480401E068-37536
chr2237480652237480707E068-37230
chr2237480715237480784E068-37153
chr2237476609237479749E069-38188
chr2237479804237480012E069-37925
chr2237480080237480193E069-37744
chr2237480285237480401E069-37536
chr2237480652237480707E069-37230
chr2237480715237480784E069-37153
chr2237480080237480193E070-37744
chr2237480285237480401E070-37536
chr2237480652237480707E070-37230
chr2237480715237480784E070-37153
chr2237476609237479749E071-38188
chr2237479804237480012E071-37925
chr2237480080237480193E071-37744
chr2237480285237480401E071-37536
chr2237480652237480707E071-37230
chr2237480715237480784E071-37153
chr2237476609237479749E072-38188
chr2237479804237480012E072-37925
chr2237480080237480193E072-37744
chr2237476012237476545E073-41392
chr2237476609237479749E073-38188
chr2237479804237480012E073-37925
chr2237480080237480193E073-37744
chr2237476609237479749E074-38188
chr2237479804237480012E074-37925
chr2237480080237480193E074-37744
chr2237480285237480401E074-37536
chr2237480652237480707E074-37230
chr2237480715237480784E074-37153
chr2237476609237479749E082-38188
chr2237479804237480012E082-37925
chr2237480285237480401E082-37536
chr2237480652237480707E082-37230
chr2237480715237480784E082-37153