rs888206

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0494 (14803/29932,GnomAD)
C==0495 (14417/29118,TOPMED)
T=0457 (2289/5008,1000G)
T=0490 (1889/3854,ALSPAC)
T=0482 (1786/3708,TWINSUK)
chr17:55390852 (GRCh38.p7) (17q22)
AD
GWASdb2
2   publication(s)
See rs on genome
53 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.55390852C>T
GRCh37.p13 chr 17NC_000017.10:g.53468213C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.467T=0.533
1000GenomesAmericanSub694C=0.530T=0.470
1000GenomesEast AsianSub1008C=0.593T=0.407
1000GenomesEuropeSub1006C=0.557T=0.443
1000GenomesGlobalStudy-wide5008C=0.543T=0.457
1000GenomesSouth AsianSub978C=0.590T=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.510T=0.490
The Genome Aggregation DatabaseAfricanSub8712C=0.461T=0.539
The Genome Aggregation DatabaseAmericanSub838C=0.510T=0.490
The Genome Aggregation DatabaseEast AsianSub1610C=0.582T=0.418
The Genome Aggregation DatabaseEuropeSub18470C=0.517T=0.482
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.505T=0.494
The Genome Aggregation DatabaseOtherSub302C=0.620T=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.495T=0.504
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.518T=0.482
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
24717145Cloud computing for detecting high-order genome-wide epistatic interaction via dynamic clustering.Guo XBMC Bioinformatics

P-Value

SNP ID p-value Traits Study
rs8882060.000311alcohol dependence20201924

eQTL of rs888206 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:53468213MMDENSG00000108960.3C>T1.1025e-3-31140Frontal_Cortex_BA9
Chr17:53468213MMDENSG00000108960.3C>T6.1717e-6-31140Anterior_cingulate_cortex

meQTL of rs888206 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 )
chr175342577453425913E067-42300
chr175343372153434520E067-33693
chr175346610253466531E067-1682
chr175347171653471857E0673503
chr175346610253466531E068-1682
chr175346832753468406E068114
chr175346845853468573E068245
chr175347613753476381E0687924
chr175347641853476503E0688205
chr175347679453476902E0688581
chr175348313053483258E06814917
chr175348496453485719E06816751
chr175349637353496461E06828160
chr175349662453496816E06828411
chr175349686353496938E06828650
chr175351365953513861E06845446
chr175351387753514072E06845664
chr175351412553514412E06845912
chr175351454853515117E06846335
chr175344337753443506E069-24707
chr175344354953443625E069-24588
chr175344370753443821E069-24392
chr175346832753468406E069114
chr175346845853468573E069245
chr175348496453485719E06916751
chr175343372153434520E071-33693
chr175344337753443506E071-24707
chr175344354953443625E071-24588
chr175344370753443821E071-24392
chr175348496453485719E07116751
chr175351655853516665E07148345
chr175351676753516891E07148554
chr175347171653471857E0723503
chr175347190453472639E0723691
chr175348474553484946E07216532
chr175348496453485719E07216751
chr175346832753468406E073114
chr175346845853468573E073245
chr175346864253468722E073429
chr175346900753469148E073794
chr175347171653471857E0733503
chr175343372153434520E074-33693
chr175344337753443506E074-24707
chr175344354953443625E074-24588
chr175344370753443821E074-24392
chr175347190453472639E0743691
chr175349995953500013E07431746
chr175341854753418640E081-49573
chr175349308953493214E08224876
chr175349662453496816E08228411
chr175349686353496938E08228650
chr175351769553517760E08249482
chr175351777153518190E08249558









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr175349737853499909E06729165
chr175349737853499909E06829165
chr175349737853499909E06929165
chr175349737853499909E07029165
chr175349737853499909E07129165
chr175349737853499909E07229165
chr175349737853499909E07329165
chr175349737853499909E07429165
chr175349737853499909E08129165
chr175349737853499909E08229165