Variant report

No.	Distal block	Cell Line	Cell type
1	chr21:40159408..40162072-chr21:40163674..40168810,7	MCF-7	breast:
2	chr21:40158174..40165115-chr21:40166769..40170231,7	K562	blood:
3	chr21:40164421..40166863-chr21:40178031..40179684,2	MCF-7	breast:
4	chr21:40158554..40160478-chr21:40163082..40164922,2	K562	blood:
5	chr21:40161930..40164831-chr21:40176426..40179511,3	K562	blood:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

rSNPs within LD-proxies of this variant (count:18)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr21:40160200-40167400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr21:40160600-40165800	Weak transcription	Esophagus	oesophagus
3	chr21:40160600-40169200	Weak transcription	Placenta	Placenta
4	chr21:40160800-40165800	Weak transcription	A549	lung
5	chr21:40160800-40165800	Weak transcription	Hela-S3	cervix
6	chr21:40160800-40167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:40161400-40165800	Weak transcription	Pancreas	Pancrea
8	chr21:40162400-40165600	Weak transcription	HepG2	liver
9	chr21:40162400-40167400	Weak transcription	K562	blood
10	chr21:40162800-40165800	Weak transcription	Small Intestine	intestine
11	chr21:40162800-40167200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr21:40163000-40170400	Weak transcription	Colonic Mucosa	Colon
13	chr21:40163000-40171400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr21:40163200-40165000	Weak transcription	Fetal Intestine Large	intestine
15	chr21:40163400-40167200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr21:40163400-40175400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr21:40163600-40167400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:40164400-40171200	Enhancers	Duodenum Mucosa	Duodenum
19	chr21:40164600-40167800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:40164600-40167800	Enhancers	Stomach Mucosa	stomach

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