Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113912322..113918193-chr2:113953978..113958305,10	MCF-7	breast:
2	chr2:113867447..113869262-chr2:113911386..113913175,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125637	Chromatin interaction
ENSG00000136689	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1586815	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1688078	0.81[AFR][1000 genomes]
rs2172189	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2248588	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2248596	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2248600	1.00[EUR][1000 genomes]
rs2248604	1.00[EUR][1000 genomes]
rs28928281	1.00[EUR][1000 genomes]
rs28928283	1.00[EUR][1000 genomes]
rs28928291	1.00[EUR][1000 genomes]
rs28928299	1.00[EUR][1000 genomes]
rs28928300	1.00[EUR][1000 genomes]
rs28928301	1.00[EUR][1000 genomes]
rs28928302	1.00[EUR][1000 genomes]
rs28928304	1.00[EUR][1000 genomes]
rs28928305	1.00[EUR][1000 genomes]
rs28928306	1.00[EUR][1000 genomes]
rs28929168	1.00[EUR][1000 genomes]
rs3099479	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315935	1.00[EUR][1000 genomes]
rs315937	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315938	1.00[EUR][1000 genomes]
rs315940	1.00[EUR][1000 genomes]
rs315941	1.00[EUR][1000 genomes]
rs315944	1.00[EUR][1000 genomes]
rs315950	1.00[EUR][1000 genomes]
rs315955	1.00[EUR][1000 genomes]
rs4848315	1.00[EUR][1000 genomes]
rs6735388	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761821	1.00[EUR][1000 genomes]
rs7573950	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113908000-113913400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:113908000-113913400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:113908200-113913400	Weak transcription	Liver	Liver
4	chr2:113908800-113913800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:113912600-113914200	Enhancers	Stomach Mucosa	stomach
6	chr2:113912800-113913600	Bivalent Enhancer	HepG2	liver
7	chr2:113913000-113913600	Enhancers	Gastric	stomach

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