Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr8:65729843-65730447	GM12878	blood:	n/a	n/a
2	RUNX3	chr8:65729865-65730533	GM12878	blood:	n/a	n/a
3	EP300	chr8:65730079-65730382	GM12878	blood:	n/a	n/a
4	REST	chr8:65730061-65730317	Hela-S3	cervix:	n/a	n/a
5	SPI1	chr8:65730078-65730301	GM12878	blood:	n/a	n/a
6	STAT3	chr8:65729617-65730375	GM12878	blood:	n/a	chr8:65729662-65729674
7	ZNF384	chr8:65730129-65730766	GM12878	blood:	n/a	n/a
8	TBP	chr8:65729917-65730368	GM12878	blood:	n/a	n/a
9	ATF2	chr8:65729957-65730438	GM12878	blood:	n/a	n/a
10	IKZF1	chr8:65729975-65730474	GM12878	blood:	n/a	n/a
11	SPI1	chr8:65730055-65730365	HL-60	blood:	n/a	n/a
12	POLR2A	chr8:65729946-65730464	HL-60	blood:	n/a	n/a
13	SPI1	chr8:65729819-65730576	GM12878	blood:	n/a	n/a
14	FOXM1	chr8:65729987-65730447	GM12878	blood:	n/a	n/a
15	ELK1	chr8:65729961-65730294	GM12878	blood:	n/a	n/a
16	EP300	chr8:65730066-65730312	GM12878	blood:	n/a	n/a
17	TBL1XR1	chr8:65730054-65730407	GM12878	blood:	n/a	n/a
18	SPI1	chr8:65730043-65730370	GM12891	blood:	n/a	n/a
19	EBF1	chr8:65730125-65730266	GM12878	blood:	n/a	n/a
20	RCOR1	chr8:65730074-65730354	GM12878	blood:	n/a	n/a
21	CUX1	chr8:65730054-65730467	GM12878	blood:	n/a	n/a
22	RUNX3	chr8:65729947-65730484	GM12878	blood:	n/a	n/a
23	NFIC	chr8:65729941-65730541	GM12878	blood:	n/a	n/a
24	EP300	chr8:65730038-65730408	GM12878	blood:	n/a	n/a
25	SPI1	chr8:65730002-65730351	GM12878	blood:	n/a	n/a
26	SPI1	chr8:65729362-65730424	HL-60	blood:	n/a	chr8:65729589-65729602 chr8:65729591-65729598 chr8:65729588-65729601
27	MEF2A	chr8:65730062-65730371	GM12878	blood:	n/a	n/a
28	SPI1	chr8:65729985-65730369	GM12891	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE22-2	chr8:65729901-65730447	XLOC_006824

Variant related genes	Relation type
ENSG00000254006	TF binding region

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12548518	0.81[TSI][hapmap]

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	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Retinopathy in non-diabetics	23393555	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6472155	CYP7B1	cis	cerebellum	SCAN
rs6472155	CYP7B1	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65720600-65731400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:65727000-65732600	Weak transcription	Pancreas	Pancrea
3	chr8:65728000-65730400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:65728200-65731600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:65729400-65730400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:65729400-65731800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:65729800-65731600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:65730000-65730400	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:65730000-65730400	Flanking Active TSS	GM12878-XiMat	blood
10	chr8:65730200-65731800	Enhancers	Monocytes-CD14+_RO01746	blood

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