Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31555503..31558332-chr2:31561263..31563974,3	MCF-7	breast:
2	chr2:31562048..31564605-chr2:31573622..31576030,2	K562	blood:

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13377	1.00[CHB][hapmap]
rs15056	1.00[CHB][hapmap]
rs17011230	1.00[CHB][hapmap]
rs188260	0.93[AFR][1000 genomes]
rs207434	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs207440	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207447	0.92[AFR][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	chr2:31558200-31573200	Strong transcription	Fetal Intestine Large	intestine
4	chr2:31558800-31564600	Strong transcription	Fetal Intestine Small	intestine
5	chr2:31559600-31565600	Strong transcription	Duodenum Mucosa	Duodenum
6	chr2:31560400-31576800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:31560800-31570800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:31560800-31599800	Weak transcription	Esophagus	oesophagus
9	chr2:31561200-31569800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:31561400-31564200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:31561600-31570400	Weak transcription	NHLF	lung
12	chr2:31562000-31564000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:31562200-31564000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:31562400-31564000	Strong transcription	HMEC	breast
15	chr2:31563600-31564400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:31563800-31564400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:31563800-31565000	Genic enhancers	NHEK	skin
18	chr2:31563800-31565600	Strong transcription	Placenta	Placenta
19	chr2:31563800-31572800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:31563800-31576600	Weak transcription	Rectal Mucosa Donor 31	rectum

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