Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118994969..118996823-chr3:119062476..119065328,2	MCF-7	breast:
2	chr3:118975620..118977787-chr3:118996347..118998850,2	K562	blood:

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

rs_ID	r²[population]
rs11916942	1.00[EUR][1000 genomes]
rs11917054	1.00[EUR][1000 genomes]
rs11918611	1.00[EUR][1000 genomes]
rs11919244	1.00[EUR][1000 genomes]
rs11921860	1.00[EUR][1000 genomes]
rs11922202	1.00[EUR][1000 genomes]
rs11924327	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11927863	1.00[EUR][1000 genomes]
rs13327592	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4337633	1.00[EUR][1000 genomes]
rs4687974	1.00[EUR][1000 genomes]
rs57065523	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57447123	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58318736	1.00[EUR][1000 genomes]
rs58369563	1.00[EUR][1000 genomes]
rs6438493	1.00[EUR][1000 genomes]
rs72956737	0.83[AMR][1000 genomes]
rs72962565	1.00[EUR][1000 genomes]
rs72968486	1.00[EUR][1000 genomes]
rs73857025	1.00[EUR][1000 genomes]
rs7611869	1.00[EUR][1000 genomes]
rs9810251	1.00[EUR][1000 genomes]
rs9810388	1.00[EUR][1000 genomes]
rs9828041	1.00[EUR][1000 genomes]
rs9830074	1.00[EUR][1000 genomes]
rs9841997	1.00[EUR][1000 genomes]
rs9846150	1.00[EUR][1000 genomes]
rs9847851	1.00[EUR][1000 genomes]
rs9853937	1.00[EUR][1000 genomes]
rs9860820	1.00[EUR][1000 genomes]

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118994800-118997800	Weak transcription	Fetal Heart	heart
2	chr3:118994800-118998000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:118994800-118998000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:118995000-118997000	Weak transcription	Right Atrium	heart
5	chr3:118995000-118997800	Weak transcription	A549	lung
6	chr3:118995200-118997600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:118995600-118997600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:118995800-118998000	Weak transcription	Left Ventricle	heart
9	chr3:118996000-118998000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:118996000-118998000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:118996400-118998000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:118996400-118998000	Weak transcription	Lung	lung

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