Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:180665551-180665861	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:180664595..180667266-chr2:180669827..180672570,2	K562	blood:
2	chr2:180663219..180666170-chr2:180666828..180669197,2	K562	blood:
3	chr2:180658967..180660810-chr2:180663202..180665986,2	MCF-7	breast:

Variant related genes	Relation type
ZNF385B	TF binding region
ENSG00000144331	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10153833	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs10930887	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs13014995	0.93[CEU][hapmap]
rs1383413	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs165373	0.91[EUR][1000 genomes]
rs165374	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs165379	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[EUR][1000 genomes]
rs165380	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs165381	0.94[EUR][1000 genomes]
rs187745	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs1906012	0.80[CHB][hapmap]
rs194674	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2367797	0.85[CEU][hapmap]
rs259831	0.92[EUR][1000 genomes]
rs259833	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2630539	0.92[EUR][1000 genomes]
rs28520865	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs357708	0.86[CHB][hapmap]
rs357711	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs357712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs357714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4894131	0.81[CEU][hapmap]
rs6725456	0.93[CEU][hapmap]
rs6752731	0.92[CEU][hapmap];0.86[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7557122	0.92[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes]
rs7585592	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7588035	0.89[CEU][hapmap]
rs7597666	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.92[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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180655600-180669600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:180665400-180666000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:180665400-180666000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:180665600-180666200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:180665600-180667000	Enhancers	Fetal Brain Male	brain
6	chr2:180665800-180666200	Enhancers	H9 Cell Line	embryonic stem cell

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