Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21259349..21261938-chr2:21262179..21264854,2	K562	blood:
2	chr2:21260491..21263046-chr2:21265697..21267958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084674	Chromatin interaction

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

rs_ID	r²[population]
rs12714225	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes]
rs12720765	0.91[AFR][1000 genomes]
rs12720794	1.00[LWK][hapmap]
rs12720853	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes]

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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21256600-21266400	Transcr. at gene 5' and 3'	HepG2	liver
2	chr2:21260400-21266000	Weak transcription	Lung	lung
3	chr2:21261400-21263000	Enhancers	HSMM	muscle
4	chr2:21261600-21266000	Weak transcription	Left Ventricle	heart
5	chr2:21261600-21266000	Weak transcription	Right Ventricle	heart
6	chr2:21261800-21265400	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
7	chr2:21261800-21265800	Transcr. at gene 5' and 3'	Liver	Liver
8	chr2:21262000-21265400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
9	chr2:21262000-21266000	Weak transcription	Pancreas	Pancrea
10	chr2:21262200-21263000	Enhancers	Ovary	ovary
11	chr2:21262200-21264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:21262200-21265600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:21262200-21265800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:21262200-21266000	Weak transcription	Gastric	stomach
15	chr2:21262400-21263000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr2:21262400-21263600	Enhancers	HSMMtube	muscle
17	chr2:21262400-21264800	Weak transcription	Adipose Nuclei	Adipose
18	chr2:21262400-21266000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:21262600-21263200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:21262600-21263600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:21262800-21263200	Enhancers	Aorta	Aorta
22	chr2:21262800-21263400	Enhancers	Right Atrium	heart

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