Variant report

Variant	rs373783847
Chromosome Location	chr9:11071-11072
allele	-/GG
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	PBX3	chr9:11042-11632	GM12878	blood:	n/a	n/a
2	REST	chr9:11014-11630	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr9:10992-11223	A549	lung:	n/a	n/a
4	CTCF	chr9:11060-11210	GM12875	blood:	n/a	n/a
5	POLR2A	chr9:10597-11530	PFSK-1	brain:	n/a	n/a
6	PAX5	chr9:10978-13896	GM12878	blood:	n/a	chr9:13165-13183
7	SP1	chr9:11001-12491	HepG2	liver:	n/a	chr9:12473-12485 chr9:12470-12484 chr9:12465-12478 chr9:12473-12485
8	TCF12	chr9:11070-12236	HepG2	liver:	n/a	n/a
9	RXRA	chr9:10986-11740	HepG2	liver:	n/a	n/a
10	CTCF	chr9:10777-11768	K562	blood:	n/a	n/a
11	JUND	chr9:11025-11120	HepG2	liver:	n/a	n/a
12	POLR2A	chr9:10705-11628	GM12878	blood:	n/a	n/a
13	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
14	CTCF	chr9:10981-11935	K562	blood:	n/a	n/a
15	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
16	ZBTB33	chr9:11047-11683	GM12878	blood:	n/a	n/a
17	TCF12	chr9:10975-11628	GM12878	blood:	n/a	n/a
18	POLR2A	chr9:10988-11564	A549	lung:	n/a	n/a
19	TCF3	chr9:10909-11691	GM12878	blood:	n/a	n/a
20	CTCF	chr9:10756-12557	A549	lung:	n/a	chr9:12414-12427
21	REST	chr9:11063-11529	HepG2	liver:	n/a	n/a
22	SP1	chr9:11023-11349	K562	blood:	n/a	n/a
23	FOXP2	chr9:11013-11249	PFSK-1	brain:	n/a	n/a
24	CTCF	chr9:10766-12278	A549	lung:	n/a	n/a
25	CBX3	chr9:11060-11757	K562	blood:	n/a	n/a
26	ZBTB33	chr9:10748-12691	K562	blood:	n/a	n/a
27	USF1	chr9:10986-11629	HepG2	liver:	n/a	n/a
28	ZBTB33	chr9:11066-11650	K562	blood:	n/a	n/a
29	FOXA2	chr9:10875-11807	A549	lung:	n/a	n/a
30	MYBL2	chr9:11064-11658	HepG2	liver:	n/a	n/a
31	POLR2A	chr9:11020-16808	H1-hESC	embryonic stem cell:	n/a	n/a
32	NR2F2	chr9:11049-11611	K562	blood:	n/a	n/a
33	REST	chr9:11035-11684	U87	brain:	n/a	n/a
34	POLR2A	chr9:9843-11118	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr9:10747-11605	A549	lung:	n/a	n/a
36	SP1	chr9:10871-11611	A549	lung:	n/a	n/a
37	CTCF	chr9:10862-11888	K562	blood:	n/a	n/a
38	REST	chr9:10804-11604	PANC-1	pancreas:	n/a	n/a
39	SP1	chr9:11037-12684	GM12878	blood:	n/a	chr9:12619-12628 chr9:12465-12478 chr9:12617-12629 chr9:12473-12485 chr9:12614-12628 chr9:12473-12485 chr9:12619-12633 chr9:12470-12484 chr9:12618-12627
40	POLR2A	chr9:11000-11230	A549	lung:	n/a	n/a
41	HEY1	chr9:10748-12288	HepG2	liver:	n/a	n/a
42	PAX5	chr9:11027-14857	GM12878	blood:	n/a	chr9:13165-13183

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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8800-14200	Weak transcription	Fetal Heart	heart
2	chr9:10200-11200	Enhancers	Osteobl	bone
3	chr9:10200-11400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr9:10200-11800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:10400-11400	ZNF genes & repeats	HSMM	muscle
6	chr9:10400-11400	Active TSS	K562	blood
7	chr9:10400-14200	Weak transcription	Fetal Lung	lung
8	chr9:10400-21600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:10600-11400	Active TSS	Placenta	Placenta
10	chr9:11000-11200	Enhancers	Primary hematopoietic stem cells	blood
11	chr9:11000-11200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr9:11000-11200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr9:11000-11200	ZNF genes & repeats	NH-A	brain
14	chr9:11000-11200	Bivalent Enhancer	NHEK	skin
15	chr9:11000-11200	Enhancers	NHLF	lung
16	chr9:11000-11400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr9:11000-11400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr9:11000-11400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr9:11000-11400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr9:11000-11400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:11000-11400	ZNF genes & repeats	Thymus	Thymus
22	chr9:11000-11400	Active TSS	GM12878-XiMat	blood
23	chr9:11000-11400	Active TSS	HMEC	breast
24	chr9:11000-11400	Active TSS	HSMMtube	muscle
25	chr9:11000-11400	Active TSS	NHDF-Ad	bronchial
26	chr9:11000-14600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:11000-16000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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