Variant report

No.	Distal block	Cell Line	Cell type
1	chr21:40477468..40480285-chr21:40483981..40486876,2	K562	blood:
2	chr21:40483944..40486730-chr21:40488695..40490921,2	MCF-7	breast:
3	chr21:40429900..40432351-chr21:40483405..40486295,2	MCF-7	breast:
4	chr21:40480995..40484748-chr21:40484754..40488551,5	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2225424	0.90[ASN][1000 genomes]
rs2836902	0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs35230395	0.97[ASN][1000 genomes]
rs941384	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][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	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40478600-40486200	Weak transcription	Psoas Muscle	Psoas
2	chr21:40478600-40497000	Weak transcription	Right Atrium	heart
3	chr21:40481400-40485000	Enhancers	Stomach Smooth Muscle	stomach
4	chr21:40481400-40486400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr21:40482000-40485600	Enhancers	Fetal Lung	lung
6	chr21:40482200-40485400	Enhancers	Fetal Stomach	stomach
7	chr21:40482600-40486400	Weak transcription	HepG2	liver
8	chr21:40483000-40485800	Weak transcription	Aorta	Aorta
9	chr21:40483000-40486400	Weak transcription	Ovary	ovary
10	chr21:40483200-40487000	Weak transcription	Lung	lung
11	chr21:40483200-40488000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:40483800-40486600	Weak transcription	NHLF	lung
13	chr21:40484000-40485600	Enhancers	Fetal Muscle Leg	muscle
14	chr21:40484200-40486200	Weak transcription	Osteobl	bone
15	chr21:40484400-40486000	Weak transcription	NHDF-Ad	bronchial
16	chr21:40484400-40486600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:40484600-40486400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:40484800-40485800	Enhancers	Fetal Brain Male	brain
19	chr21:40484800-40486400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:40484800-40486400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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