Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:208942874-208942953	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000238582	TF binding region

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

rs_ID	r²[population]
rs10192860	0.95[EUR][1000 genomes]
rs10497895	0.96[EUR][1000 genomes]
rs10932224	0.94[EUR][1000 genomes]
rs12464255	0.96[EUR][1000 genomes]
rs12465052	0.96[EUR][1000 genomes]
rs12470702	0.96[EUR][1000 genomes]
rs13428099	0.94[EUR][1000 genomes]
rs16840403	0.96[EUR][1000 genomes]
rs17538061	0.95[EUR][1000 genomes]
rs17538138	0.94[EUR][1000 genomes]
rs2362787	0.89[EUR][1000 genomes]
rs57709782	0.96[EUR][1000 genomes]
rs60335988	0.96[EUR][1000 genomes]
rs62192772	0.87[EUR][1000 genomes]
rs62192773	0.87[EUR][1000 genomes]
rs62192790	0.96[EUR][1000 genomes]
rs62192791	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62192812	0.95[EUR][1000 genomes]
rs62192814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62192815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62192816	0.99[EUR][1000 genomes]
rs62192818	0.98[EUR][1000 genomes]
rs72981543	0.92[EUR][1000 genomes]
rs72984907	0.94[EUR][1000 genomes]
rs72984917	0.95[EUR][1000 genomes]
rs72984926	0.99[EUR][1000 genomes]
rs72984932	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv2760541	chr2:208936949-208945639	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208942200-208944200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:208942400-208943600	Enhancers	Placenta	Placenta
3	chr2:208942400-208944200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:208942600-208943000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr2:208942800-208943200	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:208942800-208943200	Bivalent Enhancer	HepG2	liver
7	chr2:208942800-208943800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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