Variant report

Variant	rs11593489
Chromosome Location	chr10:50452214-50452215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10745252	1.00[ASN][1000 genomes]
rs10776546	1.00[ASN][1000 genomes]
rs10857443	1.00[ASN][1000 genomes]
rs10857444	0.87[EUR][1000 genomes]
rs10857445	1.00[ASN][1000 genomes]
rs10857451	0.87[EUR][1000 genomes]
rs11101030	0.87[EUR][1000 genomes]
rs11101031	0.87[EUR][1000 genomes]
rs11101034	0.87[EUR][1000 genomes]
rs11101044	0.87[EUR][1000 genomes]
rs11101051	0.87[EUR][1000 genomes]
rs11101054	0.87[EUR][1000 genomes]
rs12354761	0.87[EUR][1000 genomes]
rs12355572	0.87[EUR][1000 genomes]
rs2002392	1.00[ASN][1000 genomes]
rs2377950	1.00[ASN][1000 genomes]
rs2377951	1.00[ASN][1000 genomes]
rs2377952	1.00[ASN][1000 genomes]
rs2377985	1.00[ASN][1000 genomes]
rs2377987	1.00[ASN][1000 genomes]
rs2377991	1.00[ASN][1000 genomes]
rs2377992	1.00[ASN][1000 genomes]
rs2889807	1.00[ASN][1000 genomes]
rs4514329	1.00[ASN][1000 genomes]
rs4838372	1.00[ASN][1000 genomes]
rs4838465	1.00[ASN][1000 genomes]
rs6537509	1.00[ASN][1000 genomes]
rs6537510	1.00[ASN][1000 genomes]
rs7094605	1.00[ASN][1000 genomes]
rs7394346	1.00[ASN][1000 genomes]
rs7893648	1.00[ASN][1000 genomes]
rs7906560	1.00[ASN][1000 genomes]
rs7912808	1.00[ASN][1000 genomes]
rs7922135	1.00[ASN][1000 genomes]
rs7923767	1.00[ASN][1000 genomes]
rs9645532	1.00[ASN][1000 genomes]
rs9645533	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50447600-50452400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr10:50447600-50453000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr10:50450800-50452400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr10:50450800-50452400	Enhancers	Primary B cells from cord blood	blood
5	chr10:50450800-50452400	Enhancers	Primary B cells from peripheral blood	blood
6	chr10:50451000-50454200	Weak transcription	Esophagus	oesophagus
7	chr10:50451200-50452400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr10:50451400-50452400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr10:50451400-50452600	Weak transcription	Right Atrium	heart
10	chr10:50451600-50452600	Weak transcription	Pancreas	Pancrea
11	chr10:50451600-50452800	Enhancers	Brain Substantia Nigra	brain
12	chr10:50451600-50453000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:50451800-50452600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:50452000-50452800	Enhancers	Liver	Liver
15	chr10:50452200-50453000	Enhancers	Brain Hippocampus Middle	brain
16	chr10:50452200-50453800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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