Variant report

Variant	rs2030293
Chromosome Location	chr2:190112458-190112459
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10164448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10193669	1.00[JPT][hapmap]
rs10198505	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10206086	1.00[JPT][hapmap]
rs10755003	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10931409	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1464262	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1473999	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1515867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1606931	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16831217	1.00[EUR][1000 genomes]
rs16831356	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16841601	1.00[EUR][1000 genomes]
rs17270980	1.00[EUR][1000 genomes]
rs2102874	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2176649	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2351634	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2683011	0.88[EUR][1000 genomes]
rs4031918	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4494782	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4666773	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56920210	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58288282	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58796942	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6434335	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978612	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73978617	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73978620	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73978626	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73978632	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73978633	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73982009	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73982031	0.84[EUR][1000 genomes]
rs7591652	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7596033	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599676	0.83[AFR][1000 genomes]
rs870921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs870922	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939157	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939159	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1014747	chr2:190097979-190132854	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190108800-190113800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:190111800-190114400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:190112000-190112600	Enhancers	Fetal Stomach	stomach
4	chr2:190112200-190112600	Enhancers	Aorta	Aorta
5	chr2:190112400-190112600	Enhancers	Ovary	ovary

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