Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr2:56154245-56154487	T-47D	breast:	n/a	n/a
2	CEBPB	chr2:56154199-56154469	H1-hESC	embryonic stem cell:	n/a	chr2:56154322-56154333
3	CEBPB	chr2:56154143-56154495	A549	lung:	n/a	chr2:56154322-56154333
4	CEBPB	chr2:56154149-56154501	Hela-S3	cervix:	n/a	chr2:56154322-56154333
5	CEBPB	chr2:56154142-56154492	IMR90	lung:	n/a	chr2:56154322-56154333
6	CEBPB	chr2:56154099-56154490	MCF-7	breast:	n/a	chr2:56154322-56154333
7	SETDB1	chr2:56154269-56154762	U2OS	brain:	n/a	n/a
8	CEBPB	chr2:56154185-56154462	K562	blood:	n/a	chr2:56154322-56154333
9	CEBPB	chr2:56154142-56154498	HepG2	liver:	n/a	chr2:56154322-56154333
10	KAP1	chr2:56154259-56154640	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56149060..56151450-chr2:56151647..56155915,3	MCF-7	breast:

Variant related genes	Relation type
EFEMP1	TF binding region
ENSG00000115380	Chromatin interaction

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

rs_ID	r²[population]
rs10167115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10187284	0.96[AFR][1000 genomes]
rs10201208	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10518794	0.92[GIH][hapmap];0.83[TSI][hapmap]
rs13401367	0.92[YRI][hapmap];0.96[AFR][1000 genomes]
rs13429887	0.95[EUR][1000 genomes]
rs14282	0.95[EUR][1000 genomes]
rs28370328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28371015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886642	0.95[EUR][1000 genomes]
rs56210563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56268747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707184	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716543	0.81[AFR][1000 genomes]
rs6718023	1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6720328	0.81[AFR][1000 genomes]
rs6736923	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6737397	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745000	0.91[AFR][1000 genomes]
rs6748387	0.96[AFR][1000 genomes]
rs6748550	0.90[EUR][1000 genomes]
rs6748586	0.81[AFR][1000 genomes]
rs72811703	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811704	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811714	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811719	0.95[EUR][1000 genomes]
rs7562440	1.00[AMR][1000 genomes];0.95[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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv519184	chr2:56154316-56163904	Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv874161	chr2:56154316-56203798	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56153400-56154400	Enhancers	A549	lung

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