Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113694655..113699559-chr2:113699730..113703257,4	MCF-7	breast:
2	chr2:113031587..113033869-chr2:113697518..113699436,2	K562	blood:

Variant related genes	Relation type
ENSG00000188177	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13023868	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs2464908	0.86[ASN][1000 genomes]
rs2464909	0.86[ASN][1000 genomes]
rs2464910	0.86[ASN][1000 genomes]
rs2708925	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2708926	0.86[ASN][1000 genomes]
rs2708934	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs2708935	0.86[ASN][1000 genomes]
rs2708936	0.86[ASN][1000 genomes]
rs2723164	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2723176	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2723186	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2723195	0.91[ASN][1000 genomes]
rs2723196	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2723198	0.86[ASN][1000 genomes]
rs2723199	0.86[ASN][1000 genomes]
rs2723200	0.86[ASN][1000 genomes]
rs2723201	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2723202	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2723203	0.86[ASN][1000 genomes]
rs28947185	0.92[AFR][1000 genomes]
rs4074747	0.84[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs57092685	0.89[AFR][1000 genomes]
rs6725910	0.86[ASN][1000 genomes]
rs6751093	0.86[ASN][1000 genomes]
rs7564181	0.81[ASN][1000 genomes]
rs7577574	0.84[CHB][hapmap];0.91[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	chr2:113697000-113699000	Weak transcription	NHEK	skin
3	chr2:113697000-113699800	Enhancers	Liver	Liver
4	chr2:113697200-113699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:113697200-113699400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:113697400-113699000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:113697400-113699200	Weak transcription	HMEC	breast
8	chr2:113697400-113699400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:113697400-113699600	Weak transcription	Gastric	stomach
10	chr2:113697600-113699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:113697600-113699400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:113697600-113700400	Enhancers	Colon Smooth Muscle	Colon
13	chr2:113698200-113699800	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:113698200-113700000	Enhancers	Stomach Mucosa	stomach

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