Variant report

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr12:57147316-57147753	K562	blood:	n/a	n/a
2	POLR2A	chr12:57147382-57147715	K562	blood:	n/a	n/a
3	ARID3A	chr12:57147446-57147741	K562	blood:	n/a	n/a
4	TEAD4	chr12:57147429-57147795	K562	blood:	n/a	n/a
5	POLR2A	chr12:57147357-57147716	K562	blood:	n/a	n/a
6	GABPA	chr12:57147409-57147764	K562	blood:	n/a	n/a
7	EP300	chr12:57147423-57147775	K562	blood:	n/a	n/a
8	CEBPB	chr12:57147435-57147640	K562	blood:	n/a	n/a
9	POLR2A	chr12:57147299-57147767	PBDE	blood:	n/a	n/a
10	JUN	chr12:57147437-57147671	K562	blood:	n/a	n/a
11	EP300	chr12:57147516-57147762	K562	blood:	n/a	n/a
12	CBX3	chr12:57147069-57147971	K562	blood:	n/a	n/a
13	TAL1	chr12:57147313-57147832	K562	blood:	n/a	n/a
14	ZNF143	chr12:57147509-57147645	K562	blood:	n/a	n/a
15	MAX	chr12:57147396-57147647	K562	blood:	n/a	n/a
16	NR2F2	chr12:57147145-57147850	K562	blood:	n/a	n/a
17	CBX3	chr12:57147401-57147742	K562	blood:	n/a	n/a
18	GATA1	chr12:57147459-57147722	PBDEFetal	blood:	n/a	n/a
19	GATA2	chr12:57147327-57147846	K562	blood:	n/a	n/a
20	ELF1	chr12:57147387-57147693	K562	blood:	n/a	n/a
21	GATA1	chr12:57147153-57147968	PBDE	blood:	n/a	n/a
22	CEBPD	chr12:57147311-57147880	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:57144212..57146191-chr12:57147241..57149295,3	K562	blood:
2	chr12:57113156..57115169-chr12:57146013..57147663,2	K562	blood:
3	chr12:57144212..57146516-chr12:57146710..57149295,3	K562	blood:
4	chr12:57080587..57084416-chr12:57143537..57149136,7	MCF-7	breast:
5	chr12:57116864..57121762-chr12:57140480..57149366,20	K562	blood:
6	chr12:57143195..57148502-chr12:57480974..57485182,5	K562	blood:
7	chr12:57080423..57083977-chr12:57143486..57147763,4	K562	blood:
8	chr12:57037903..57040646-chr12:57144102..57147965,5	K562	blood:
9	chr12:57117536..57119496-chr12:57145407..57147566,3	MCF-7	breast:
10	chr12:57081853..57084367-chr12:57144672..57147569,5	K562	blood:
11	chr12:57117044..57122605-chr12:57141917..57149366,15	K562	blood:
12	chr12:57146289..57148785-chr12:57505531..57507402,2	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11171953	1.00[EUR][1000 genomes]
rs11171963	1.00[EUR][1000 genomes]
rs11171964	1.00[EUR][1000 genomes]
rs11171969	1.00[EUR][1000 genomes]
rs11172028	1.00[EUR][1000 genomes]
rs11172032	1.00[EUR][1000 genomes]
rs11172040	1.00[EUR][1000 genomes]
rs11172041	1.00[EUR][1000 genomes]
rs11514185	1.00[EUR][1000 genomes]
rs12299402	1.00[EUR][1000 genomes]
rs12300453	1.00[EUR][1000 genomes]
rs12302242	1.00[EUR][1000 genomes]
rs12306275	1.00[EUR][1000 genomes]
rs12317052	1.00[EUR][1000 genomes]
rs12318649	1.00[EUR][1000 genomes]
rs55935220	1.00[EUR][1000 genomes]
rs57115078	1.00[EUR][1000 genomes]
rs58416798	1.00[EUR][1000 genomes]
rs61633783	1.00[EUR][1000 genomes]
rs73326629	1.00[EUR][1000 genomes]
rs73326643	1.00[EUR][1000 genomes]
rs73326652	1.00[EUR][1000 genomes]
rs73326663	1.00[EUR][1000 genomes]
rs73326665	1.00[EUR][1000 genomes]
rs73326670	1.00[EUR][1000 genomes]
rs73326673	1.00[EUR][1000 genomes]
rs73326688	1.00[EUR][1000 genomes]
rs73326690	1.00[EUR][1000 genomes]
rs73326692	1.00[EUR][1000 genomes]
rs73326697	1.00[EUR][1000 genomes]
rs73326698	1.00[EUR][1000 genomes]
rs73337089	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337095	1.00[EUR][1000 genomes]
rs73338912	1.00[EUR][1000 genomes]
rs74093933	1.00[EUR][1000 genomes]
rs74093937	1.00[EUR][1000 genomes]
rs74093946	1.00[EUR][1000 genomes]
rs74093947	1.00[EUR][1000 genomes]
rs9919706	1.00[EUR][1000 genomes]
rs9919771	1.00[EUR][1000 genomes]
rs9919774	1.00[EUR][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr12:57146400-57147600	Flanking Active TSS	Dnd41	blood
2	chr12:57146400-57149000	Weak transcription	Psoas Muscle	Psoas
3	chr12:57146400-57150200	Weak transcription	Liver	Liver
4	chr12:57146400-57150400	Weak transcription	Spleen	Spleen
5	chr12:57146400-57151000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:57146400-57160400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:57146600-57148000	Enhancers	K562	blood
8	chr12:57146600-57148200	Weak transcription	Pancreas	Pancrea
9	chr12:57146600-57151000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:57146600-57151000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:57146600-57151400	Weak transcription	HepG2	liver

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