rs11984569

Homo sapiens
G>T
EBF2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0345 (10327/29860,GnomAD)
G==0330 (9629/29118,TOPMED)
G==0383 (1916/5008,1000G)
G==0308 (1187/3854,ALSPAC)
G==0329 (1220/3708,TWINSUK)
chr8:25977452 (GRCh38.p7) (8p21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
33 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.25977452G>T
GRCh37.p13 chr 8NC_000008.10:g.25834968G>T
EBF2 RefSeqGeneNG_030344.1:g.72673C>A

Gene: EBF2, early B-cell factor 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EBF2 transcriptNM_022659.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.340T=0.660
1000GenomesAmericanSub694G=0.360T=0.640
1000GenomesEast AsianSub1008G=0.595T=0.405
1000GenomesEuropeSub1006G=0.323T=0.677
1000GenomesGlobalStudy-wide5008G=0.383T=0.617
1000GenomesSouth AsianSub978G=0.300T=0.700
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.308T=0.692
The Genome Aggregation DatabaseAfricanSub8694G=0.308T=0.692
The Genome Aggregation DatabaseAmericanSub834G=0.440T=0.560
The Genome Aggregation DatabaseEast AsianSub1614G=0.574T=0.426
The Genome Aggregation DatabaseEuropeSub18416G=0.341T=0.658
The Genome Aggregation DatabaseGlobalStudy-wide29860G=0.345T=0.654
The Genome Aggregation DatabaseOtherSub302G=0.250T=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.330T=0.669
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.329T=0.671
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
rs119845690.000191alcohol dependence20201924

eQTL of rs11984569 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 rs11984569 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 )
chr82579284025793331E068-41637
chr82579207225792746E069-42222
chr82579284025793331E069-41637
chr82579045325790781E070-44187
chr82579178625791926E070-43042
chr82579199625792071E070-42897
chr82579207225792746E070-42222
chr82581969925820543E070-14425
chr82582058825820762E070-14206
chr82582093625821220E070-13748
chr82584895725849052E07013989
chr82579199625792071E071-42897
chr82579207225792746E071-42222
chr82579284025793331E072-41637
chr82579045325790781E081-44187
chr82579155425791662E081-43306
chr82579178625791926E081-43042
chr82579199625792071E081-42897
chr82579207225792746E081-42222
chr82579284025793331E081-41637
chr82579335625794221E081-40747
chr82579446725794520E081-40448
chr82579473125794781E081-40187
chr82579520025795413E081-39555
chr82579603725796255E081-38713
chr82579630125796416E081-38552
chr82584652825846680E08111560
chr82584668725846909E08111719
chr82584699125848924E08112023
chr82584895725849052E08113989
chr82579284025793331E082-41637
chr82579335625794221E082-40747
chr82588057325880644E08245605







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr82586681625868493E07031848
chr82586681625868493E07231848