rs2240328

Homo sapiens
T>C
RBM6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0134 (4021/29962,GnomAD)
T==0112 (3264/29118,TOPMED)
T==0098 (492/5008,1000G)
T==0166 (638/3854,ALSPAC)
T==0177 (657/3708,TWINSUK)
chr3:50075571 (GRCh38.p7) (3p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
39 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.50075571T>C
GRCh37.p13 chr 3NC_000003.11:g.50113004T>C

Gene: RBM6, RNA binding motif protein 6(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RBM6 transcript variant 2NM_001167582.1:c.N/AIntron Variant
RBM6 transcript variant 1NM_005777.2:c.N/AIntron Variant
RBM6 transcript variant X3XM_005264784.1:c.N/AIntron Variant
RBM6 transcript variant X5XM_005264785.1:c.N/AIntron Variant
RBM6 transcript variant X12XM_005264786.1:c.N/AIntron Variant
RBM6 transcript variant X11XM_005264787.2:c.N/AIntron Variant
RBM6 transcript variant X2XM_006712916.1:c.N/AIntron Variant
RBM6 transcript variant X6XM_017005497.1:c.N/AIntron Variant
RBM6 transcript variant X7XM_017005498.1:c.N/AIntron Variant
RBM6 transcript variant X8XM_017005499.1:c.N/AIntron Variant
RBM6 transcript variant X9XM_017005500.1:c.N/AIntron Variant
RBM6 transcript variant X10XM_017005501.1:c.N/AIntron Variant
RBM6 transcript variant X10XM_017005502.1:c.N/AIntron Variant
RBM6 transcript variant X4XM_017005496.1:c.N/AGenic Downstream Transcript Variant
RBM6 transcript variant X1XR_001739975.1:n.N/AIntron Variant
RBM6 transcript variant X14XR_001739976.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.018C=0.982
1000GenomesAmericanSub694T=0.100C=0.900
1000GenomesEast AsianSub1008T=0.106C=0.894
1000GenomesEuropeSub1006T=0.174C=0.826
1000GenomesGlobalStudy-wide5008T=0.098C=0.902
1000GenomesSouth AsianSub978T=0.120C=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.166C=0.834
The Genome Aggregation DatabaseAfricanSub8722T=0.037C=0.963
The Genome Aggregation DatabaseAmericanSub838T=0.100C=0.900
The Genome Aggregation DatabaseEast AsianSub1616T=0.108C=0.892
The Genome Aggregation DatabaseEuropeSub18486T=0.184C=0.815
The Genome Aggregation DatabaseGlobalStudy-wide29962T=0.134C=0.865
The Genome Aggregation DatabaseOtherSub300T=0.080C=0.920
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.112C=0.887
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.177C=0.823
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
rs22403280.000681alcohol dependence20201924

eQTL of rs2240328 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:50113004RBM6ENSG00000004534.10T>C0.0000e+0135564Cerebellum

meQTL of rs2240328 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 )
chr35016200750162173E06749003
chr35016219750162236E06749193
chr35016231250162667E06749308
chr35012851350128553E06815509
chr35012858950128643E06815585
chr35015952150159787E06846517
chr35016060950160974E06847605
chr35016112550161647E06848121
chr35016183150161947E06848827
chr35016200750162173E06849003
chr35008747650087537E069-25467
chr35008779950088129E069-24875
chr35012884150128905E06915837
chr35016231250162667E06949308
chr35016183150161947E07048827
chr35016200750162173E07049003
chr35016219750162236E07049193
chr35016231250162667E07049308
chr35008747650087537E071-25467
chr35008779950088129E071-24875
chr35012851350128553E07115509
chr35012858950128643E07115585
chr35012884150128905E07115837
chr35015952150159787E07146517
chr35016183150161947E07148827
chr35016200750162173E07149003
chr35016219750162236E07149193
chr35016231250162667E07149308
chr35012884150128905E07215837
chr35008747650087537E073-25467
chr35008779950088129E073-24875
chr35015952150159787E07346517
chr35015995950160029E07346955
chr35016060950160974E07347605
chr35016231250162667E07349308
chr35012820650128356E07415202
chr35012851350128553E07415509
chr35012858950128643E07415585
chr35012884150128905E08115837









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35012599050127491E06712986
chr35012599050127491E06812986
chr35012599050127491E06912986
chr35012599050127491E07012986
chr35012599050127491E07112986
chr35012599050127491E07212986
chr35012599050127491E07312986
chr35012599050127491E07412986
chr35012599050127491E08112986
chr35012599050127491E08212986