Variant report

Variant	rs200530560
Chromosome Location	chr9:10976-10977
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:10597-11530	PFSK-1	brain:	n/a	n/a
2	CTCF	chr9:10777-11768	K562	blood:	n/a	n/a
3	POLR2A	chr9:10705-11628	GM12878	blood:	n/a	n/a
4	POU2F2	chr9:9958-26894	GM12878	blood:	n/a	chr9:26236-26248 chr9:26237-26247 chr9:24338-24360 chr9:24344-24358 chr9:12470-12482 chr9:21047-21058 chr9:18236-18248 chr9:26236-26250 chr9:26235-26250 chr9:26104-26118 chr9:17963-17975
5	FOSL2	chr9:9975-26973	HepG2	liver:	n/a	chr9:14084-14095 chr9:14953-14964 chr9:12952-12961 chr9:23521-23533 chr9:22018-22027 chr9:25770-25779 chr9:24597-24604 chr9:23519-23530 chr9:23523-23531 chr9:19839-19851
6	TCF12	chr9:10975-11628	GM12878	blood:	n/a	n/a
7	TCF3	chr9:10909-11691	GM12878	blood:	n/a	n/a
8	CTCF	chr9:10756-12557	A549	lung:	n/a	chr9:12414-12427
9	CTCF	chr9:10766-12278	A549	lung:	n/a	n/a
10	CBX3	chr9:10782-10991	K562	blood:	n/a	n/a
11	ZBTB33	chr9:10748-12691	K562	blood:	n/a	n/a
12	CBX3	chr9:9977-11030	K562	blood:	n/a	n/a
13	FOXA2	chr9:10875-11807	A549	lung:	n/a	n/a
14	POLR2A	chr9:10844-11028	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr9:9843-11118	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr9:10747-11605	A549	lung:	n/a	n/a
17	SP1	chr9:10871-11611	A549	lung:	n/a	n/a
18	CTCF	chr9:10862-11888	K562	blood:	n/a	n/a
19	REST	chr9:10804-11604	PANC-1	pancreas:	n/a	n/a
20	HEY1	chr9:10748-12288	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
DDX11L5	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv972288	chr9:10001-13840	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv982187	chr9:10001-32355	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv8400	chr9:10001-51412	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv891939	chr9:10001-129899	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
5	esv16986	chr9:10485-25682	Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv19929	chr9:10485-48531	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8800-14200	Weak transcription	Fetal Heart	heart
2	chr9:10000-11000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:10200-11000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:10200-11200	Enhancers	Osteobl	bone
5	chr9:10200-11400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr9:10200-11800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:10400-11400	ZNF genes & repeats	HSMM	muscle
8	chr9:10400-11400	Active TSS	K562	blood
9	chr9:10400-14200	Weak transcription	Fetal Lung	lung
10	chr9:10400-21600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:10600-11400	Active TSS	Placenta	Placenta
12	chr9:10800-11000	Weak transcription	GM12878-XiMat	blood

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