Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49348522..49350092-chr13:49351651..49354289,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10220120	0.83[AFR][1000 genomes]
rs10220151	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11840346	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11840607	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57408197	0.83[AFR][1000 genomes]
rs57623504	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60826934	0.83[AFR][1000 genomes]
rs74074768	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316412	0.84[AFR][1000 genomes]
rs9316413	0.84[AFR][1000 genomes]
rs9591212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591214	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596000	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596001	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596005	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596006	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596008	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596012	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1044086	chr13:49331713-49350131	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49346400-49350600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr13:49346600-49357200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:49346800-49352200	Weak transcription	Left Ventricle	heart
4	chr13:49347400-49352000	Enhancers	Hela-S3	cervix
5	chr13:49347800-49352000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:49348400-49350000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:49348400-49351400	Weak transcription	Placenta	Placenta
8	chr13:49349000-49349800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:49349000-49349800	Enhancers	NHDF-Ad	bronchial
10	chr13:49349200-49349800	Enhancers	Osteobl	bone
11	chr13:49349200-49351000	Enhancers	NH-A	brain
12	chr13:49349200-49351400	Enhancers	NHLF	lung
13	chr13:49349200-49356800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:49349400-49350000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:49349600-49350600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:49349600-49350600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:49349600-49351200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:49349600-49351200	Enhancers	HSMM	muscle
19	chr13:49349600-49351400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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