Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112506562..112509215-chr3:112510007..112511658,2	MCF-7	breast:
2	chr3:112510669..112512839-chr3:112519950..112522382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242770	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10934208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10934209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11535080	1.00[AMR][1000 genomes]
rs11536316	1.00[AMR][1000 genomes]
rs11543524	1.00[AMR][1000 genomes]
rs11560149	1.00[AMR][1000 genomes]
rs1249526	1.00[AMR][1000 genomes]
rs56666099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56820451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57287136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57360909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58105957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58271800	1.00[AFR][1000 genomes]
rs59890654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60481719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60671920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61191442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61526975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61674636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781211	0.88[ASN][1000 genomes]
rs72491118	1.00[AFR][1000 genomes]
rs72952104	1.00[AMR][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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112495200-112512600	Weak transcription	Spleen	Spleen
2	chr3:112505200-112512800	Weak transcription	Ovary	ovary
3	chr3:112509000-112512800	Weak transcription	K562	blood
4	chr3:112509200-112511800	Weak transcription	A549	lung
5	chr3:112509200-112512200	Weak transcription	Stomach Mucosa	stomach
6	chr3:112509200-112518000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:112509600-112512400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:112510400-112511800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:112510800-112512400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr3:112511000-112512000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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