rs9392863

Homo sapiens
G>A
RREB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0191 (5724/29918,GnomAD)
A=0168 (4899/29118,TOPMED)
A=0163 (815/5008,1000G)
A=0258 (994/3854,ALSPAC)
A=0253 (937/3708,TWINSUK)
chr6:7194776 (GRCh38.p7) (6p24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
81 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.7194776G>A
GRCh37.p13 chr 6NC_000006.11:g.7195009G>A
RREB1 RefSeqGeneNG_016201.1:g.92180G>A

Gene: RREB1, ras responsive element binding protein 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RREB1 transcript variant 3NM_001003698.3:c.N/AIntron Variant
RREB1 transcript variant 1NM_001003699.3:c.N/AIntron Variant
RREB1 transcript variant 4NM_001003700.1:c.N/AIntron Variant
RREB1 transcript variant 2NM_001168344.1:c.N/AIntron Variant
RREB1 transcript variant X1XM_006715157.3:c.N/AIntron Variant
RREB1 transcript variant X2XM_011514794.2:c.N/AIntron Variant
RREB1 transcript variant X3XM_011514795.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.958A=0.042
1000GenomesAmericanSub694G=0.760A=0.240
1000GenomesEast AsianSub1008G=0.797A=0.203
1000GenomesEuropeSub1006G=0.737A=0.263
1000GenomesGlobalStudy-wide5008G=0.837A=0.163
1000GenomesSouth AsianSub978G=0.880A=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.742A=0.258
The Genome Aggregation DatabaseAfricanSub8710G=0.929A=0.071
The Genome Aggregation DatabaseAmericanSub830G=0.790A=0.210
The Genome Aggregation DatabaseEast AsianSub1616G=0.817A=0.183
The Genome Aggregation DatabaseEuropeSub18460G=0.754A=0.245
The Genome Aggregation DatabaseGlobalStudy-wide29918G=0.808A=0.191
The Genome Aggregation DatabaseOtherSub302G=0.680A=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.831A=0.168
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.747A=0.253
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
rs93928630.00081alcohol dependence20201924

eQTL of rs9392863 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 rs9392863 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 )
chr671560917156238E067-38771
chr671563467156501E067-38508
chr671565387156618E067-38391
chr671451567148043E068-46966
chr671560917156238E068-38771
chr671563467156501E068-38508
chr671565387156618E068-38391
chr671566307156860E068-38149
chr671568977156985E068-38024
chr671570287157213E068-37796
chr671651107165814E068-29195
chr671658977165975E068-29034
chr671690597169196E068-25813
chr671694077170041E068-24968
chr671702217170290E068-24719
chr671704397170567E068-24442
chr671705807170658E068-24351
chr671451567148043E069-46966
chr671481587148357E069-46652
chr671649477165092E069-29917
chr671651107165814E069-29195
chr671658977165975E069-29034
chr671694077170041E069-24968
chr671702217170290E069-24719
chr671704397170567E069-24442
chr671705807170658E069-24351
chr671707467170851E069-24158
chr671451567148043E071-46966
chr671481587148357E071-46652
chr671540317155560E071-39449
chr671560917156238E071-38771
chr671563467156501E071-38508
chr671565387156618E071-38391
chr671566307156860E071-38149
chr671648387164914E071-30095
chr671649477165092E071-29917
chr671651107165814E071-29195
chr671658977165975E071-29034
chr671661307167551E071-27458
chr671694077170041E071-24968
chr671702217170290E071-24719
chr671704397170567E071-24442
chr671705807170658E071-24351
chr672430547243284E07148045
chr672433447244099E07148335
chr671451567148043E072-46966
chr671481587148357E072-46652
chr672203517220407E07225342
chr672204377220504E07225428
chr672433447244099E07248335
chr671481587148357E073-46652
chr671560917156238E073-38771
chr671563467156501E073-38508
chr671565387156618E073-38391
chr671566307156860E073-38149
chr671651107165814E073-29195
chr671658977165975E073-29034
chr671694077170041E073-24968
chr671702217170290E073-24719
chr671704397170567E073-24442
chr671705807170658E073-24351
chr671707467170851E073-24158
chr671763267176457E073-18552
chr671765367176773E073-18236
chr671451567148043E074-46966
chr671565387156618E074-38391
chr671566307156860E074-38149
chr671568977156985E074-38024
chr671570287157213E074-37796
chr671648387164914E074-30095
chr671649477165092E074-29917
chr671651107165814E074-29195
chr671690597169196E074-25813
chr671694077170041E074-24968
chr671702217170290E074-24719
chr671704397170567E074-24442
chr671705807170658E074-24351
chr671707467170851E074-24158
chr671710357171085E074-23924
chr671711347171228E074-23781
chr671712917171906E074-23103