rs2057019

Homo sapiens
C>T
LOC105374972 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0315 (9430/29928,GnomAD)
C==0273 (7969/29118,TOPMED)
C==0366 (1835/5008,1000G)
C==0313 (1207/3854,ALSPAC)
C==0314 (1166/3708,TWINSUK)
chr6:22686612 (GRCh38.p7) (6p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
61 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.22686612C>T
GRCh37.p13 chr 6NC_000006.11:g.22686841C>T

Gene: LOC105374972, uncharacterized LOC105374972(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105374972 transcript variant 1NR_134613.1:n.N/AIntron Variant
LOC105374972 transcript variant 2NR_134614.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.231T=0.769
1000GenomesAmericanSub694C=0.350T=0.650
1000GenomesEast AsianSub1008C=0.645T=0.355
1000GenomesEuropeSub1006C=0.326T=0.674
1000GenomesGlobalStudy-wide5008C=0.366T=0.634
1000GenomesSouth AsianSub978C=0.320T=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.313T=0.687
The Genome Aggregation DatabaseAfricanSub8712C=0.240T=0.760
The Genome Aggregation DatabaseAmericanSub838C=0.410T=0.590
The Genome Aggregation DatabaseEast AsianSub1608C=0.626T=0.374
The Genome Aggregation DatabaseEuropeSub18468C=0.318T=0.681
The Genome Aggregation DatabaseGlobalStudy-wide29928C=0.315T=0.684
The Genome Aggregation DatabaseOtherSub302C=0.330T=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.273T=0.726
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.314T=0.686
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
rs20570190.00032alcohol dependence20201924

eQTL of rs2057019 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 rs2057019 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 )
chr62265494522655093E067-31748
chr62265679822658987E067-27854
chr62265907522659601E067-27240
chr62265494522655093E068-31748
chr62265679822658987E068-27854
chr62265907522659601E068-27240
chr62266031322660363E068-26478
chr62266048622660557E068-26284
chr62269881122698889E06811970
chr62269915522699205E06812314
chr62269941722699914E06812576
chr62270912222709352E06822281
chr62271001622711317E06823175
chr62271822322718398E06831382
chr62265406822654800E069-32041
chr62265679822658987E069-27854
chr62265907522659601E069-27240
chr62269941722699914E06912576
chr62271001622711317E06923175
chr62264772822647778E070-39063
chr62264804722648214E070-38627
chr62265653822656614E070-30227
chr62265661922656753E070-30088
chr62265679822658987E070-27854
chr62265907522659601E070-27240
chr62266031322660363E070-26478
chr62266048622660557E070-26284
chr62266065922660750E070-26091
chr62269683822696945E0709997
chr62269763422697704E07010793
chr62269915522699205E07012314
chr62269941722699914E07012576
chr62265406822654800E071-32041
chr62265494522655093E071-31748
chr62265679822658987E071-27854
chr62265907522659601E071-27240
chr62269881122698889E07111970
chr62269915522699205E07112314
chr62269941722699914E07112576
chr62271001622711317E07123175
chr62265211822652214E072-34627
chr62265406822654800E072-32041
chr62265494522655093E072-31748
chr62265907522659601E072-27240
chr62269915522699205E07212314
chr62265614322656203E074-30638
chr62265653822656614E074-30227
chr62265661922656753E074-30088
chr62265679822658987E074-27854
chr62265907522659601E074-27240
chr62271001622711317E07423175
chr62271822322718398E07431382
chr62265907522659601E081-27240
chr62266031322660363E081-26478
chr62266048622660557E081-26284
chr62266065922660750E081-26091
chr62266885022669547E081-17294
chr62265679822658987E082-27854
chr62265907522659601E082-27240
chr62271001622711317E08223175
chr62271822322718398E08231382