Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:113694655..113699559-chr2:113699730..113703257,4	MCF-7	breast:
2	chr2:113695165..113698377-chr2:113699884..113701948,3	K562	blood:
3	chr2:113695796..113697897-chr2:113704279..113705804,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11676778	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11683079	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11687740	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13023868	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2708925	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2708933	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2708934	0.91[CHB][hapmap]
rs2723164	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2723176	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs2723186	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs2723196	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2723201	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs2723202	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs3811045	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3811046	0.92[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3811047	0.92[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3811048	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4074747	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4241122	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4289204	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6717710	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7559606	0.92[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7577574	0.92[CHB][hapmap];0.83[JPT][hapmap]

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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	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
3	nsv979388	chr2:113696105-113705504	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113694000-113699200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:113695800-113697600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:113696000-113696800	Enhancers	Gastric	stomach
4	chr2:113696000-113697400	Enhancers	HMEC	breast
5	chr2:113696200-113696800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:113696200-113697000	Flanking Active TSS	Liver	Liver
7	chr2:113696400-113697200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:113696400-113697600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:113696600-113697000	Enhancers	NH-A	brain
10	chr2:113696600-113697000	Enhancers	NHEK	skin
11	chr2:113696600-113697000	Enhancers	Osteobl	bone
12	chr2:113696600-113697200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:113696600-113697400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:113696600-113697400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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