rs7082195

Homo sapiens
C>T
RBM20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0137 (4113/29938,GnomAD)
T=0148 (4329/29118,TOPMED)
T=0136 (679/5008,1000G)
T=0168 (649/3854,ALSPAC)
T=0172 (639/3708,TWINSUK)
chr10:110667691 (GRCh38.p7) (10q25.2)
ND
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.110667691C>T
GRCh37.p13 chr 10NC_000010.10:g.112427449C>T
RBM20 RefSeqGene LRG_382

Gene: RBM20, RNA binding motif protein 20(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RBM20 transcriptNM_001134363.2:c.N/AIntron Variant
RBM20 transcript variant X1XM_017016103.1:c.N/AIntron Variant
RBM20 transcript variant X3XM_011539697.2:c.N/AGenic Upstream Transcript Variant
RBM20 transcript variant X2XM_017016104.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.881T=0.119
1000GenomesAmericanSub694C=0.850T=0.150
1000GenomesEast AsianSub1008C=0.897T=0.103
1000GenomesEuropeSub1006C=0.839T=0.161
1000GenomesGlobalStudy-wide5008C=0.864T=0.136
1000GenomesSouth AsianSub978C=0.850T=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.832T=0.168
The Genome Aggregation DatabaseAfricanSub8700C=0.878T=0.122
The Genome Aggregation DatabaseAmericanSub838C=0.860T=0.140
The Genome Aggregation DatabaseEast AsianSub1618C=0.906T=0.094
The Genome Aggregation DatabaseEuropeSub18480C=0.851T=0.148
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.862T=0.137
The Genome Aggregation DatabaseOtherSub302C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.851T=0.148
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.828T=0.172
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs70821954.37E-05nicotine smoking19268276

eQTL of rs7082195 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 rs7082195 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 )
chr10112439211112440231E06811762
chr10112439211112440231E07111762
chr10112440252112440609E07112803
chr10112439211112440231E08111762
chr10112440252112440609E08112803
chr10112396479112397874E082-29575
chr10112439211112440231E08211762
chr10112440252112440609E08212803
chr10112440652112441201E08213203




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10112431668112432645E0674219
chr10112401914112404331E068-23118
chr10112404352112405268E068-22181
chr10112431668112432645E0684219
chr10112401914112404331E069-23118
chr10112431668112432645E0694219
chr10112431668112432645E0704219
chr10112401914112404331E071-23118
chr10112404352112405268E071-22181
chr10112431668112432645E0714219
chr10112401914112404331E072-23118
chr10112404352112405268E072-22181
chr10112431668112432645E0724219
chr10112401914112404331E073-23118
chr10112404352112405268E073-22181
chr10112431668112432645E0734219
chr10112431668112432645E0744219