Variant report

Variant	rs574047666
Chromosome Location	chr9:10274-10275
allele	-/AC
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	ZBTB33	chr9:10209-10447	HCT-116	colon:	n/a	n/a
2	TCF12	chr9:10114-10492	HepG2	liver:	n/a	n/a
3	CTCF	chr9:10160-10310	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr9:9939-10658	GM12878	blood:	n/a	n/a
5	ZBTB33	chr9:9999-10478	HepG2	liver:	n/a	n/a
6	CEBPB	chr9:9953-10625	GM12878	blood:	n/a	n/a
7	TCF3	chr9:9958-10617	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:9921-10648	GM12892	blood:	n/a	n/a
9	ZBTB33	chr9:9964-10596	K562	blood:	n/a	n/a
10	POLR2A	chr9:10211-10382	HCT-116	colon:	n/a	n/a
11	NFIC	chr9:10184-10405	HepG2	liver:	n/a	n/a
12	SP1	chr9:10030-10310	GM12878	blood:	n/a	n/a
13	POLR2A	chr9:9911-10472	PFSK-1	brain:	n/a	n/a
14	PAX5	chr9:9928-10923	GM12878	blood:	n/a	n/a
15	SP1	chr9:9961-10632	GM12878	blood:	n/a	n/a
16	RXRA	chr9:9930-10729	HepG2	liver:	n/a	n/a
17	POLR2A	chr9:9937-10518	PANC-1	pancreas:	n/a	n/a
18	GABPA	chr9:10195-10419	Hela-S3	cervix:	n/a	n/a
19	GABPA	chr9:10202-10398	A549	lung:	n/a	n/a
20	POLR2A	chr9:9935-10577	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIX5	chr9:10169-10436	K562	blood:	n/a	n/a
22	YY1	chr9:10184-10438	A549	lung:	n/a	n/a
23	POLR2A	chr9:9913-10581	U87	brain:	n/a	n/a
24	TCF12	chr9:10225-10443	GM12878	blood:	n/a	n/a
25	SIX5	chr9:9926-10518	A549	lung:	n/a	n/a
26	FOXM1	chr9:10019-10519	GM12878	blood:	n/a	n/a
27	POU2F2	chr9:9898-10640	GM12891	blood:	n/a	n/a
28	SIN3AK20	chr9:10174-10418	HepG2	liver:	n/a	n/a
29	POU2F2	chr9:9968-10936	GM12891	blood:	n/a	n/a
30	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
31	HEY1	chr9:10140-10384	K562	blood:	n/a	n/a
32	SPI1	chr9:10181-10429	GM12878	blood:	n/a	n/a
33	CTCF	chr9:10160-10310	HepG2	liver:	n/a	n/a
34	EP300	chr9:10141-10331	GM12878	blood:	n/a	n/a
35	USF1	chr9:10176-10424	HepG2	liver:	n/a	n/a
36	SPI1	chr9:10058-10500	K562	blood:	n/a	n/a
37	ZBTB33	chr9:9921-10648	HepG2	liver:	n/a	n/a
38	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
39	PAX5	chr9:9991-10555	GM12878	blood:	n/a	n/a
40	BATF	chr9:10173-10378	GM12878	blood:	n/a	n/a
41	POLR2A	chr9:9952-10586	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr9:9966-10433	SK-N-SH	brain:	n/a	n/a
43	REST	chr9:10062-10343	GM12878	blood:	n/a	n/a
44	SPI1	chr9:9931-10645	GM12878	blood:	n/a	n/a
45	POLR2A	chr9:9937-10601	SK-N-SH	brain:	n/a	n/a
46	SIN3AK20	chr9:10086-10446	A549	lung:	n/a	n/a
47	TAF7	chr9:9930-10525	H1-hESC	embryonic stem cell:	n/a	n/a
48	NR2F2	chr9:9978-10487	K562	blood:	n/a	n/a
49	PBX3	chr9:10163-10432	GM12878	blood:	n/a	n/a
50	RXRA	chr9:10016-10330	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
DDX11L5	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8800-14200	Weak transcription	Fetal Heart	heart
2	chr9:10000-10400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:10000-10600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr9:10000-11000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:10200-10400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:10200-10400	Enhancers	Colonic Mucosa	Colon
7	chr9:10200-10400	ZNF genes & repeats	Fetal Brain Male	brain
8	chr9:10200-10400	Enhancers	Fetal Lung	lung
9	chr9:10200-10400	ZNF genes & repeats	NH-A	brain
10	chr9:10200-10400	Flanking Bivalent TSS/Enh	NHEK	skin
11	chr9:10200-10600	ZNF genes & repeats	Placenta	Placenta
12	chr9:10200-11000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:10200-11200	Enhancers	Osteobl	bone
14	chr9:10200-11400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr9:10200-11800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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