Variant report

Variant	rs544446874
Chromosome Location	chr9:10498-10499
allele	A/T
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	chr9:9939-10658	GM12878	blood:	n/a	n/a
2	CEBPB	chr9:9953-10625	GM12878	blood:	n/a	n/a
3	TCF3	chr9:9958-10617	GM12878	blood:	n/a	n/a
4	POLR2A	chr9:9921-10648	GM12892	blood:	n/a	n/a
5	ZBTB33	chr9:9964-10596	K562	blood:	n/a	n/a
6	PAX5	chr9:9928-10923	GM12878	blood:	n/a	n/a
7	SP1	chr9:9961-10632	GM12878	blood:	n/a	n/a
8	RXRA	chr9:9930-10729	HepG2	liver:	n/a	n/a
9	POLR2A	chr9:9937-10518	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr9:9935-10577	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr9:9913-10581	U87	brain:	n/a	n/a
12	SIX5	chr9:9926-10518	A549	lung:	n/a	n/a
13	FOXM1	chr9:10019-10519	GM12878	blood:	n/a	n/a
14	POU2F2	chr9:9898-10640	GM12891	blood:	n/a	n/a
15	POU2F2	chr9:9968-10936	GM12891	blood:	n/a	n/a
16	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
17	SPI1	chr9:10058-10500	K562	blood:	n/a	n/a
18	ZBTB33	chr9:9921-10648	HepG2	liver:	n/a	n/a
19	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
20	PAX5	chr9:9991-10555	GM12878	blood:	n/a	n/a
21	POLR2A	chr9:9952-10586	PANC-1	pancreas:	n/a	n/a
22	SPI1	chr9:9931-10645	GM12878	blood:	n/a	n/a
23	POLR2A	chr9:9937-10601	SK-N-SH	brain:	n/a	n/a
24	TAF7	chr9:9930-10525	H1-hESC	embryonic stem cell:	n/a	n/a
25	SP1	chr9:9902-10525	A549	lung:	n/a	n/a
26	POU2F2	chr9:10161-10500	GM12878	blood:	n/a	n/a
27	ZBTB33	chr9:10479-10624	HepG2	liver:	n/a	n/a
28	MYC	chr9:10130-10499	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr9:9957-10625	H1-hESC	embryonic stem cell:	n/a	n/a
30	NFIC	chr9:9967-10576	GM12878	blood:	n/a	n/a
31	CBX3	chr9:9977-11030	K562	blood:	n/a	n/a
32	ZBTB33	chr9:9948-10611	K562	blood:	n/a	n/a
33	ZBTB33	chr9:9917-10752	GM12878	blood:	n/a	n/a
34	SP1	chr9:9952-10580	A549	lung:	n/a	n/a
35	EP300	chr9:10065-10601	GM12878	blood:	n/a	n/a
36	POLR2A	chr9:9936-10530	U87	brain:	n/a	n/a
37	MAFF	chr9:9999-10511	K562	blood:	n/a	n/a
38	IRF4	chr9:9942-10507	GM12878	blood:	n/a	n/a
39	POLR2A	chr9:9915-10635	GM12891	blood:	n/a	n/a
40	SIX5	chr9:10134-10511	GM12878	blood:	n/a	n/a
41	POLR2A	chr9:9843-11118	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr9:10056-10518	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr9:9899-10554	H1-hESC	embryonic stem cell:	n/a	n/a
44	BCL11A	chr9:9980-10551	GM12878	blood:	n/a	n/a
45	TCF12	chr9:10148-10564	GM12878	blood:	n/a	n/a
46	PAX5	chr9:10055-10593	GM12878	blood:	n/a	n/a
47	ZBTB33	chr9:9918-10651	GM12878	blood:	n/a	n/a
48	IRF4	chr9:9944-10578	GM12878	blood:	n/a	n/a
49	POLR2A	chr9:9933-10526	GM12891	blood:	n/a	n/a
50	CEBPB	chr9:9911-10511	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
DDX11L5	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv10298	chr9:10485-10965	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
6	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
7	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:13 , 50 per page) page: 1

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

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