Variant report

Variant	rs2495865
Chromosome Location	chr6:48785596-48785597
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16878260	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16878289	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16878293	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2490129	1.00[AMR][1000 genomes]
rs2490158	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2490159	0.92[AFR][1000 genomes]
rs2490160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2490161	1.00[AMR][1000 genomes]
rs2490163	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2495864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2997371	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3001924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57604599	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57668127	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479521	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479522	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479531	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479536	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479549	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479552	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48784600-48786400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:48784600-48786400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:48784800-48786400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:48785000-48786000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:48785000-48786200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:48785000-48786200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:48785000-48786200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:48785000-48786400	Enhancers	HMEC	breast
9	chr6:48785200-48785800	Enhancers	NHLF	lung
10	chr6:48785200-48786200	Enhancers	NHDF-Ad	bronchial
11	chr6:48785200-48786200	Enhancers	Osteobl	bone
12	chr6:48785400-48785800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:48785400-48785800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:48785400-48785800	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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