rs6066110

Homo sapiens
A>G
EYA2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0486 (14541/29890,GnomAD)
G=0472 (13752/29118,TOPMED)
A==0486 (2432/5008,1000G)
G=0434 (1673/3854,ALSPAC)
G=0447 (1659/3708,TWINSUK)
chr20:46911158 (GRCh38.p7) (20q13.12)
AD
GWASdb2
1   publication(s)
See rs on genome
53 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.46911158A>G
GRCh37.p13 chr 20NC_000020.10:g.45539797A>G
EYA2 RefSeqGeneNG_011673.2:g.21289A>G

Gene: EYA2, EYA transcriptional coactivator and phosphatase 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EYA2 transcript variant 1NM_005244.4:c.N/AIntron Variant
EYA2 transcript variant 5NM_172110.3:c.N/AIntron Variant
EYA2 transcript variant X2XM_005260327.2:c.N/AIntron Variant
EYA2 transcript variant X1XM_017027721.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.495G=0.505
1000GenomesAmericanSub694A=0.600G=0.400
1000GenomesEast AsianSub1008A=0.241G=0.759
1000GenomesEuropeSub1006A=0.538G=0.462
1000GenomesGlobalStudy-wide5008A=0.486G=0.514
1000GenomesSouth AsianSub978A=0.590G=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.566G=0.434
The Genome Aggregation DatabaseAfricanSub8690A=0.481G=0.519
The Genome Aggregation DatabaseAmericanSub832A=0.600G=0.400
The Genome Aggregation DatabaseEast AsianSub1612A=0.243G=0.757
The Genome Aggregation DatabaseEuropeSub18454A=0.546G=0.453
The Genome Aggregation DatabaseGlobalStudy-wide29890A=0.513G=0.486
The Genome Aggregation DatabaseOtherSub302A=0.630G=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.527G=0.472
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.553G=0.447
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs60661100.000673alcohol dependence21314694

eQTL of rs6066110 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 rs6066110 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 )
chr204555713345557220E06717336
chr204555722945557749E06717432
chr204555786245558040E06718065
chr204555807045558120E06718273
chr204555930945559599E06819512
chr204555967845559835E06819881
chr204556017045560809E06820373
chr204556088345560933E06821086
chr204555686445556928E06917067
chr204555713345557220E06917336
chr204555930945559599E06919512
chr204555967845559835E06919881
chr204557275345572803E06932956
chr204557285245572913E06933055
chr204557313245573182E06933335
chr204555713345557220E07117336
chr204555722945557749E07117432
chr204555786245558040E07118065
chr204555807045558120E07118273
chr204556017045560809E07120373
chr204555930945559599E07219512
chr204555967845559835E07219881
chr204556017045560809E07220373
chr204557216745572355E07232370
chr204557235845572412E07232561
chr204557246845572518E07232671
chr204553388745534417E073-5380
chr204555686445556928E07317067
chr204555713345557220E07317336
chr204556017045560809E07320373
chr204556088345560933E07321086
chr204554350645544075E0743709
chr204555667345556713E07416876
chr204555686445556928E07417067
chr204555713345557220E07417336
chr204555722945557749E07417432
chr204555713345557220E08117336
chr204555722945557749E08117432
chr204555786245558040E08118065
chr204555807045558120E08118273
chr204555828845558404E08118491
chr204555859145558740E08118794
chr204555907345559127E08119276
chr204555930945559599E08119512
chr204555967845559835E08119881
chr204555713345557220E08217336
chr204555722945557749E08217432
chr204555786245558040E08218065
chr204555807045558120E08218273
chr204555828845558404E08218491
chr204555859145558740E08218794
chr204555907345559127E08219276
chr204555930945559599E08219512









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr204550104745501540E067-38257
chr204552363545525025E067-14772
chr204550104745501540E068-38257
chr204552290045523582E068-16215
chr204552363545525025E068-14772
chr204550104745501540E069-38257
chr204552363545525025E069-14772
chr204550104745501540E071-38257
chr204552363545525025E071-14772
chr204550104745501540E072-38257
chr204552363545525025E072-14772
chr204552363545525025E073-14772
chr204550104745501540E074-38257
chr204552363545525025E074-14772
chr204552290045523582E082-16215
chr204552363545525025E082-14772