Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120000902..120002481-chr4:120133558..120135375,2	MCF-7	breast:
2	chr4:120001166..120004043-chr4:120014693..120016511,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10518309	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs11943226	0.82[AMR][1000 genomes]
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]
rs17050077	0.82[AMR][1000 genomes]
rs17050081	0.82[AMR][1000 genomes]
rs17050104	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs17050127	0.81[ASN][1000 genomes]
rs28703190	1.00[EUR][1000 genomes]
rs57214946	1.00[EUR][1000 genomes]
rs57626477	1.00[EUR][1000 genomes]
rs60158411	0.81[ASN][1000 genomes]
rs60317087	1.00[EUR][1000 genomes]
rs60779416	0.81[ASN][1000 genomes]
rs6813762	1.00[EUR][1000 genomes]
rs6837925	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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6848910	0.81[ASN][1000 genomes]
rs6854148	1.00[EUR][1000 genomes]
rs72907289	1.00[EUR][1000 genomes]
rs72908513	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7678499	1.00[EUR][1000 genomes]
rs7678948	1.00[EUR][1000 genomes]
rs9684201	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119975800-120003000	Weak transcription	Left Ventricle	heart
2	chr4:120001000-120002000	Enhancers	HepG2	liver
3	chr4:120001200-120002000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:120001200-120002000	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr4:120001200-120002000	Flanking Active TSS	A549	lung
6	chr4:120001200-120002400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:120001200-120002400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr4:120001200-120003200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:120001200-120003400	Enhancers	Stomach Mucosa	stomach
10	chr4:120001200-120004000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr4:120001400-120001600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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