Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:33505343..33508128-chr9:33516249..33518237,2	MCF-7	breast:
2	chr9:33510907..33514402-chr9:33515217..33518181,3	MCF-7	breast:

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

rs_ID	r²[population]
rs3814514	1.00[ASN][1000 genomes]
rs3860990	0.84[EUR][1000 genomes]
rs56108788	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7022355	0.99[EUR][1000 genomes]
rs72709612	0.83[EUR][1000 genomes]
rs72709613	0.84[EUR][1000 genomes]
rs72709621	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709624	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72709629	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709632	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709635	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1024207	chr9:33296368-33574892	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv427840	chr9:33495185-33989975	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS 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	69 gene(s)	inside rSNPs	diseases
3	nsv982208	chr9:33516497-33614296	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr9:33511400-33523400	Weak transcription	Right Ventricle	heart
2	chr9:33511800-33522000	Weak transcription	HSMM	muscle
3	chr9:33512000-33517200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:33512000-33517600	Weak transcription	K562	blood
5	chr9:33512000-33517600	Weak transcription	NHDF-Ad	bronchial
6	chr9:33512000-33523200	Weak transcription	HUVEC	blood vessel
7	chr9:33512200-33523200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:33513800-33523400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:33514400-33517000	Enhancers	NHEK	skin
10	chr9:33514800-33517600	Weak transcription	Hela-S3	cervix
11	chr9:33515000-33520800	Weak transcription	A549	lung
12	chr9:33515200-33517000	Weak transcription	Esophagus	oesophagus
13	chr9:33515200-33523200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr9:33515400-33517200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:33516200-33517000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:33516200-33517200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:33516200-33517400	Weak transcription	HMEC	breast
18	chr9:33516600-33518200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:33516800-33517000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:33516800-33517400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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