Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119977183..119980062-chr4:119993153..119995599,2	MCF-7	breast:
2	chr4:119993551..119997144-chr4:120131428..120134672,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10002998	0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs1047894	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs10518309	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12507195	0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap]
rs16997547	1.00[EUR][1000 genomes]
rs16997549	1.00[EUR][1000 genomes]
rs17050041	1.00[EUR][1000 genomes]
rs17050049	1.00[EUR][1000 genomes]
rs17050052	1.00[EUR][1000 genomes]
rs17050056	1.00[EUR][1000 genomes]
rs17050104	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17050116	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs17050127	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28703190	1.00[EUR][1000 genomes]
rs3756153	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs3814060	0.85[CHB][hapmap]
rs57214946	1.00[EUR][1000 genomes]
rs57626477	1.00[EUR][1000 genomes]
rs60158411	0.85[ASN][1000 genomes]
rs60317087	1.00[EUR][1000 genomes]
rs60779416	0.85[ASN][1000 genomes]
rs6813762	1.00[EUR][1000 genomes]
rs6824074	0.86[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6839198	1.00[EUR][1000 genomes]
rs6843548	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6848910	0.85[ASN][1000 genomes]
rs6854148	1.00[EUR][1000 genomes]
rs72907289	1.00[EUR][1000 genomes]
rs72908513	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749410	0.88[CHB][hapmap]
rs7678499	1.00[EUR][1000 genomes]
rs7678948	1.00[EUR][1000 genomes]
rs9684201	1.00[EUR][1000 genomes];0.89[ASN][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119975800-120003000	Weak transcription	Left Ventricle	heart
2	chr4:119979200-119996400	Weak transcription	Aorta	Aorta
3	chr4:119992600-119999800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:119994000-119994400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:119994000-119995000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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