rs7562399

Homo sapiens
G>A
GREB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0024 (2002/80488,ExAC)
A=0071 (2144/29980,GnomAD)
A=0107 (3142/29116,TOPMED)
G==0076 (509/6724,GO-ESP)
A=0074 (372/5008,1000G)
A=0001 (2/3854,ALSPAC)
A=0001 (5/3708,TWINSUK)
chr2:11627156 (GRCh38.p7) (2p25.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.11627156G>A
GRCh37.p13 chr 2NC_000002.11:g.11767282G>A
GREB1 RefSeqGeneNG_029429.1:g.98041G>A

Gene: GREB1, growth regulation by estrogen in breast cancer 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GREB1 transcript variant aNM_014668.3:c.N/AIntron Variant
GREB1 transcript variant bNM_033090.2:c.N/AGenic Downstream Transcript Variant
GREB1 transcript variant cNM_148903.2:c.N/AGenic Downstream Transcript Variant
GREB1 transcript variant X2XM_005246192.4:c.N/AIntron Variant
GREB1 transcript variant X13XM_005246196.3:c.N/AIntron Variant
GREB1 transcript variant X3XM_011510418.2:c.N/AIntron Variant
GREB1 transcript variant X2XM_011510419.2:c.N/AIntron Variant
GREB1 transcript variant X12XM_011510422.2:c.N/AIntron Variant
GREB1 transcript variant X8XM_011510423.2:c.N/AGenic Downstream Transcript Variant
GREB1 transcript variant X4XR_001739081.1:n.N/AIntron Variant
GREB1 transcript variant X7XR_922686.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.736A=0.264
1000GenomesAmericanSub694G=0.970A=0.030
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.998A=0.002
1000GenomesGlobalStudy-wide5008G=0.926A=0.074
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.999A=0.001
The Exome Aggregation ConsortiumAmericanSub15220G=0.873A=0.126
The Exome Aggregation ConsortiumAsianSub12000G=0.999A=0.000
The Exome Aggregation ConsortiumEuropeSub52682G=0.998A=0.001
The Exome Aggregation ConsortiumGlobalStudy-wide80488G=0.975A=0.024
The Exome Aggregation ConsortiumOtherSub586G=0.990A=0.010
The Genome Aggregation DatabaseAfricanSub8720G=0.757A=0.243
The Genome Aggregation DatabaseAmericanSub838G=0.990A=0.010
The Genome Aggregation DatabaseEast AsianSub1622G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18498G=0.999A=0.001
The Genome Aggregation DatabaseGlobalStudy-wide29980G=0.928A=0.071
The Genome Aggregation DatabaseOtherSub302G=0.990A=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.892A=0.107
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.999A=0.001
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
rs75623990.000774alcohol dependence20201924

eQTL of rs7562399 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 rs7562399 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 )
chr21172276311723626E067-43656
chr21172403511724158E067-43124
chr21172416111724885E067-42397
chr21175264411752718E067-14564
chr21176133511762002E067-5280
chr21172276311723626E068-43656
chr21172403511724158E068-43124
chr21172416111724885E068-42397
chr21176133511762002E068-5280
chr21181695711817012E06849675
chr21172416111724885E069-42397
chr21179324611793290E06925964
chr21179835611798698E06931074
chr21172276311723626E071-43656
chr21172403511724158E071-43124
chr21172416111724885E071-42397
chr21175264411752718E071-14564
chr21176133511762002E071-5280
chr21172210511722220E072-45062
chr21172227711722627E072-44655
chr21172276311723626E072-43656
chr21172403511724158E072-43124
chr21172416111724885E072-42397
chr21176133511762002E072-5280
chr21179808711798174E07230805
chr21176133511762002E074-5280
chr21179203311792415E07424751
chr21181622111816658E07448939
chr21181676411816929E07449482
chr21181695711817012E07449675
chr21179203311792415E08124751
chr21179274511792992E08125463
chr21179324611793290E08125964
chr21179203311792415E08224751
chr21179274511792992E08225463
chr21179324611793290E08225964