rs12743267

Homo sapiens
C>T
LINC01057 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0206 (6197/29950,GnomAD)
T=0176 (5144/29118,TOPMED)
T=0231 (1158/5008,1000G)
T=0237 (914/3854,ALSPAC)
T=0236 (875/3708,TWINSUK)
chr1:94783750 (GRCh38.p7) (1p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
96 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.94783750C>T
GRCh37.p13 chr 1NC_000001.10:g.95249306C>T

Gene: LINC01057, long intergenic non-protein coding RNA 1057(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC44A3-AS1 transcriptNR_104131.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.924T=0.076
1000GenomesAmericanSub694C=0.710T=0.290
1000GenomesEast AsianSub1008C=0.569T=0.431
1000GenomesEuropeSub1006C=0.737T=0.263
1000GenomesGlobalStudy-wide5008C=0.769T=0.231
1000GenomesSouth AsianSub978C=0.840T=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.763T=0.237
The Genome Aggregation DatabaseAfricanSub8724C=0.901T=0.099
The Genome Aggregation DatabaseAmericanSub836C=0.670T=0.330
The Genome Aggregation DatabaseEast AsianSub1618C=0.589T=0.411
The Genome Aggregation DatabaseEuropeSub18472C=0.765T=0.234
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.793T=0.206
The Genome Aggregation DatabaseOtherSub300C=0.820T=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.823T=0.176
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.764T=0.236
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs127432670.00034alcohol dependence20201924

eQTL of rs12743267 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 rs12743267 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 )
chr19520939995209924E067-39382
chr19525806695259213E0678760
chr19526677095266855E06717464
chr19526688295266952E06717576
chr19526740095268169E06718094
chr19526822795268317E06718921
chr19526875795269820E06719451
chr19527009695270337E06720790
chr19527201695272361E06722710
chr19527238495272557E06723078
chr19529309595293208E06743789
chr19520939995209924E068-39382
chr19520999695210056E068-39250
chr19521006895210129E068-39177
chr19525771195257761E0688405
chr19525806695259213E0688760
chr19526677095266855E06817464
chr19526688295266952E06817576
chr19526822795268317E06818921
chr19526875795269820E06819451
chr19527009695270337E06820790
chr19527134495271435E06822038
chr19527178995271910E06822483
chr19527201695272361E06822710
chr19520939995209924E069-39382
chr19520999695210056E069-39250
chr19521006895210129E069-39177
chr19525806695259213E0698760
chr19526822795268317E06918921
chr19526875795269820E06919451
chr19527009695270337E06920790
chr19527178995271910E06922483
chr19527201695272361E06922710
chr19527238495272557E06923078
chr19526822795268317E07018921
chr19526875795269820E07019451
chr19527201695272361E07022710
chr19527238495272557E07023078
chr19527265295272709E07023346
chr19527272495272795E07023418
chr19520045195200502E071-48804
chr19520920195209280E071-40026
chr19520939995209924E071-39382
chr19520999695210056E071-39250
chr19521006895210129E071-39177
chr19524981895249881E071512
chr19525771195257761E0718405
chr19525806695259213E0718760
chr19526356895263617E07114262
chr19526649395266612E07117187
chr19526677095266855E07117464
chr19526688295266952E07117576
chr19526822795268317E07118921
chr19526875795269820E07119451
chr19527009695270337E07120790
chr19527134495271435E07122038
chr19527144495271763E07122138
chr19527178995271910E07122483
chr19527201695272361E07122710
chr19527238495272557E07123078
chr19529309595293208E07143789
chr19520939995209924E072-39382
chr19520999695210056E072-39250
chr19521006895210129E072-39177
chr19525771195257761E0728405
chr19525806695259213E0728760
chr19526822795268317E07218921
chr19526875795269820E07219451
chr19527009695270337E07220790
chr19527144495271763E07222138
chr19527178995271910E07222483
chr19527201695272361E07222710
chr19527238495272557E07223078
chr19520939995209924E073-39382
chr19520999695210056E073-39250
chr19521006895210129E073-39177
chr19525771195257761E0738405
chr19525806695259213E0738760
chr19526740095268169E07318094
chr19526822795268317E07318921
chr19526875795269820E07319451
chr19527009695270337E07320790
chr19520920195209280E074-40026
chr19520939995209924E074-39382
chr19520999695210056E074-39250
chr19522118395221693E074-27613
chr19525806695259213E0748760
chr19526822795268317E07418921
chr19527009695270337E07420790
chr19527144495271763E08122138
chr19527178995271910E08122483
chr19527201695272361E08122710
chr19527238495272557E08123078
chr19526740095268169E08218094
chr19527201695272361E08222710
chr19527238495272557E08223078










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr19528518595286322E06735879
chr19528634795287886E06737041
chr19528518595286322E06835879
chr19528518595286322E06935879
chr19528518595286322E07035879
chr19528518595286322E07135879
chr19528518595286322E07235879
chr19528518595286322E07335879
chr19528518595286322E07435879
chr19528518595286322E08235879