Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222815579..222817874-chr1:223285443..223288406,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154305	Chromatin interaction

rSNPs within LD-proxies of this variant (count:11)

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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:223276600-223287400	Weak transcription	Right Atrium	heart
2	chr1:223276600-223287600	Weak transcription	Right Ventricle	heart
3	chr1:223276800-223287400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:223276800-223302200	Weak transcription	Esophagus	oesophagus
5	chr1:223277000-223306800	Weak transcription	Primary T cells from cord blood	blood
6	chr1:223280400-223287200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:223281400-223286200	Enhancers	Fetal Intestine Small	intestine
8	chr1:223282400-223302800	Weak transcription	Thymus	Thymus
9	chr1:223283200-223286400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:223283200-223287200	Weak transcription	Left Ventricle	heart
11	chr1:223283400-223302600	Weak transcription	Gastric	stomach
12	chr1:223283600-223288800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:223284000-223286200	Strong transcription	Ovary	ovary
14	chr1:223284400-223287200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:223284400-223287400	Weak transcription	HUVEC	blood vessel
16	chr1:223284400-223296800	Weak transcription	Pancreas	Pancrea
17	chr1:223284600-223296800	Weak transcription	Stomach Mucosa	stomach
18	chr1:223284800-223286000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:223285200-223286400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:223285400-223286400	Strong transcription	Lung	lung

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