Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:113894569..113897651-chr2:113991647..113995572,3	MCF-7	breast:
2	chr2:113895417..113899830-chr2:113913287..113915798,5	MCF-7	breast:
3	chr2:113893764..113901636-chr2:113913546..113916556,11	MCF-7	breast:
4	chr2:113895735..113898572-chr2:113925018..113926554,2	K562	blood:
5	chr2:113893960..113897409-chr2:113953910..113957318,8	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1586815	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2172189	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]
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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761821	1.00[EUR][1000 genomes]
rs7573950	1.00[EUR][1000 genomes]
rs923692	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113894200-113897200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:113895000-113902400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:113895600-113897200	Enhancers	Stomach Mucosa	stomach
4	chr2:113895600-113897400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:113896200-113897200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:113896200-113897200	Flanking Active TSS	HepG2	liver
7	chr2:113896200-113897400	Enhancers	Placenta	Placenta
8	chr2:113896200-113897400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:113896600-113897200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:113896600-113897200	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:113896600-113897400	Enhancers	Fetal Intestine Large	intestine
12	chr2:113896600-113897400	Enhancers	Fetal Intestine Small	intestine
13	chr2:113897000-113906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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