Variant report

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:122287660-122287810	HBMEC	blood vessel:	n/a	n/a
2	CTCF	chr12:122287620-122287770	GM12875	blood:	n/a	n/a
3	SPI1	chr12:122287687-122288031	HL-60	blood:	n/a	n/a
4	RAD21	chr12:122287527-122287908	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:122287626-122287786	K562	blood:	n/a	n/a
6	SPI1	chr12:122287679-122287973	GM12891	blood:	n/a	n/a
7	CTCF	chr12:122287720-122287870	A549	lung:	n/a	n/a
8	POLR2A	chr12:122287436-122287972	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:122287391-122288010	HL-60	blood:	n/a	n/a
10	CTCF	chr12:122287660-122287810	NB4	blood:	n/a	n/a
11	SPI1	chr12:122287653-122287990	GM12878	blood:	n/a	n/a
12	ZNF143	chr12:122287718-122287942	K562	blood:	n/a	n/a
13	POLR2A	chr12:122287429-122288095	HL-60	blood:	n/a	n/a
14	SPI1	chr12:122287606-122287933	GM12891	blood:	n/a	n/a
15	SPI1	chr12:122287676-122287942	K562	blood:	n/a	n/a
16	SPI1	chr12:122287655-122287965	K562	blood:	n/a	n/a
17	CTCF	chr12:122287620-122287770	GM12868	blood:	n/a	n/a
18	SPI1	chr12:122287498-122288085	HL-60	blood:	n/a	n/a
19	CTCF	chr12:122287590-122287782	K562	blood:	n/a	n/a
20	CTCF	chr12:122287620-122287770	K562	blood:	n/a	n/a
21	CTCF	chr12:122287640-122287790	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
HPD	TF binding region

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv3420303	chr12:122287669-122291867	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122294000	Weak transcription	Spleen	Spleen
2	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122278400-122293000	Weak transcription	GM12878-XiMat	blood
4	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:122281400-122292600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:122281800-122288600	Strong transcription	Liver	Liver
7	chr12:122282000-122287800	Weak transcription	K562	blood
8	chr12:122284200-122287800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:122287000-122288400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:122287200-122288000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr12:122287200-122288000	Enhancers	Primary B cells from cord blood	blood
12	chr12:122287400-122288000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:122287600-122287800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:122287600-122292400	Weak transcription	HepG2	liver

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