Variant report

Variant	rs1464262
Chromosome Location	chr2:190127123-190127124
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10164448	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10198505	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10755003	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10931409	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1473999	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1515867	0.92[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]
rs2030293	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2102874	0.92[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4494782	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4666773	1.00[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	0.92[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73982031	0.84[EUR][1000 genomes]
rs7591652	1.00[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	0.87[AFR][1000 genomes]
rs870921	0.90[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190119800-190127800	Weak transcription	Aorta	Aorta
2	chr2:190123200-190132200	Weak transcription	Pancreas	Pancrea
3	chr2:190123600-190129600	Weak transcription	Psoas Muscle	Psoas
4	chr2:190125000-190127200	Enhancers	A549	lung
5	chr2:190125400-190127800	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:190125800-190127200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:190126200-190127200	Enhancers	Fetal Lung	lung
8	chr2:190126400-190127200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:190126600-190127200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:190126600-190127800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:190126600-190129200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:190126600-190129800	Weak transcription	NHDF-Ad	bronchial
13	chr2:190126600-190130000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:190126600-190130000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:190126600-190130400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:190126600-190132200	Weak transcription	NH-A	brain
17	chr2:190126600-190132400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:190126800-190132000	Weak transcription	Osteobl	bone
19	chr2:190127000-190132000	Weak transcription	NHLF	lung

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