Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31555503..31558332-chr2:31561263..31563974,3	MCF-7	breast:

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

rs_ID	r²[population]
rs207430	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs207433	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207436	0.93[EUR][1000 genomes]
rs207441	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207442	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207444	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs207448	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs207449	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs207450	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207451	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207452	0.81[AMR][1000 genomes];1.00[EUR][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2762446	chr2:31521093-31610311	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	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	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31557200-31579600	Strong transcription	Liver	Liver
3	chr2:31557600-31563600	Weak transcription	Gastric	stomach
4	chr2:31558200-31573200	Strong transcription	Fetal Intestine Large	intestine
5	chr2:31558800-31564600	Strong transcription	Fetal Intestine Small	intestine
6	chr2:31559600-31565600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr2:31560400-31576800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:31560600-31562400	Weak transcription	Placenta	Placenta
9	chr2:31560800-31562600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:31560800-31570800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:31560800-31599800	Weak transcription	Esophagus	oesophagus
12	chr2:31561000-31561800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:31561200-31562000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:31561200-31569800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:31561400-31562400	Genic enhancers	NHEK	skin
16	chr2:31561400-31564200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:31561600-31562200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:31561600-31562400	Genic enhancers	HMEC	breast
19	chr2:31561600-31563600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:31561600-31570400	Weak transcription	NHLF	lung

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