Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57089572..57092375-chr1:57094756..57097462,2	K562	blood:

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10888995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888996	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10888997	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10888999	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11206880	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11206883	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12032377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12073253	0.82[ASN][1000 genomes]
rs2404990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2746355	0.80[ASN][1000 genomes]
rs4912214	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7551675	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7553623	0.86[AMR][1000 genomes];0.95[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2762142	chr1:57082459-57094901	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57090800-57093800	Enhancers	Hela-S3	cervix
2	chr1:57091000-57093600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:57091000-57093800	Enhancers	NHDF-Ad	bronchial
4	chr1:57091200-57092800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:57091200-57093600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:57091400-57092400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:57091400-57093000	Enhancers	A549	lung
8	chr1:57091400-57093800	Enhancers	HSMM	muscle
9	chr1:57091400-57093800	Enhancers	NHLF	lung
10	chr1:57091400-57093800	Enhancers	Osteobl	bone
11	chr1:57091600-57092400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:57091600-57092600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:57091600-57093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:57091600-57093600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:57091800-57092800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:57091800-57093400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:57091800-57093800	Enhancers	NH-A	brain
18	chr1:57092000-57092400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:57092200-57093000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:57092200-57093400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:57092200-57093400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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