Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:30503362-30503800	MCF-7	breast:	n/a	chr13:30503560-30503571
2	CEBPB	chr13:30503388-30503754	A549	lung:	n/a	chr13:30503560-30503571
3	CEBPB	chr13:30503416-30503707	H1-hESC	embryonic stem cell:	n/a	chr13:30503560-30503571
4	CEBPB	chr13:30503374-30503751	HepG2	liver:	n/a	chr13:30503560-30503571
5	CEBPB	chr13:30503389-30503743	IMR90	lung:	n/a	chr13:30503560-30503571
6	CEBPB	chr13:30503392-30503703	Hela-S3	cervix:	n/a	chr13:30503560-30503571
7	CEBPB	chr13:30503385-30503745	K562	blood:	n/a	chr13:30503560-30503571

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30502030..30504176-chr13:30507351..30509428,2	MCF-7	breast:

Variant related genes	Relation type
LINC00572	TF binding region

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1093631	0.92[CHB][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs1325368	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17074100	0.83[CHD][hapmap]
rs17074118	0.83[CHD][hapmap]
rs17631642	0.83[CHB][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs17688104	0.90[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs2388239	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3843678	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4318068	0.88[ASN][1000 genomes]
rs4769779	0.88[ASN][1000 genomes]
rs4769780	0.88[ASN][1000 genomes]
rs4769781	0.88[ASN][1000 genomes]
rs585668	0.88[ASN][1000 genomes]
rs73157197	0.82[ASN][1000 genomes]
rs7319246	0.96[ASN][1000 genomes]
rs7320271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7320355	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7320728	0.96[ASN][1000 genomes]
rs7322038	0.88[ASN][1000 genomes]
rs74042894	0.99[ASN][1000 genomes]
rs7992473	0.92[CHB][hapmap];0.86[JPT][hapmap];0.99[ASN][1000 genomes]
rs7994222	0.87[ASN][1000 genomes]
rs843883	0.88[ASN][1000 genomes]
rs927731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs927732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs927733	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9508590	0.88[JPT][hapmap]
rs9508592	0.88[ASN][1000 genomes]
rs9508594	0.89[ASN][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3843677	CDX2	cis	cerebellum	SCAN
rs3843677	FAM123A	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30498400-30508000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:30498800-30513200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:30499000-30510000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:30499200-30509000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:30503200-30503800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:30503200-30503800	Enhancers	Esophagus	oesophagus
7	chr13:30503200-30504000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:30503200-30504200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr13:30503400-30503800	Enhancers	Lung	lung
10	chr13:30503400-30504000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:30503600-30503800	Enhancers	Pancreas	Pancrea
12	chr13:30503600-30504000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:30503600-30504000	Enhancers	NHEK	skin

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