Variant report

Variant	nsv962600
Chromosome Location	chr20:25756298-25765667
allele	n/a
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	BCL11A	chr20:25756665-25756856	GM12878	blood:	n/a	n/a
2	CTCF	chr20:25758100-25758250	A549	lung:	n/a	n/a
3	EP300	chr20:25765241-25765559	GM12878	blood:	n/a	n/a
4	FOSL2	chr20:25765556-25766377	HepG2	liver:	n/a	n/a
5	FOSL2	chr20:25765008-25765570	HepG2	liver:	n/a	n/a
6	FOSL2	chr20:25765649-25766105	HepG2	liver:	n/a	n/a
7	FOSL2	chr20:25763400-25763874	HepG2	liver:	n/a	n/a
8	FOSL2	chr20:25764858-25765292	HepG2	liver:	n/a	n/a
9	FOSL2	chr20:25764100-25764375	HepG2	liver:	n/a	n/a
10	FOSL2	chr20:25763230-25763655	HepG2	liver:	n/a	n/a
11	FOSL2	chr20:25756613-25756956	HepG2	liver:	n/a	n/a
12	FOXA1	chr20:25765361-25765729	HepG2	liver:	n/a	n/a
13	IRF4	chr20:25762197-25762531	GM12878	blood:	n/a	n/a
14	JUND	chr20:25762107-25762555	HepG2	liver:	n/a	n/a
15	JUND	chr20:25763520-25763767	HepG2	liver:	n/a	n/a
16	JUND	chr20:25765293-25765480	HepG2	liver:	n/a	n/a
17	JUND	chr20:25757845-25757960	HepG2	liver:	n/a	chr20:25757884-25757896
18	PAX5	chr20:25756710-25756860	GM12878	blood:	n/a	n/a
19	PAX5	chr20:25763401-25763960	GM12878	blood:	n/a	chr20:25763634-25763643
20	PAX5	chr20:25761512-25761937	GM12878	blood:	n/a	n/a
21	PAX5	chr20:25762090-25762628	GM12878	blood:	n/a	n/a
22	POLR2A	chr20:25761970-25762333	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr20:25762429-25762475	Gliobla	brain:	n/a	n/a
24	POLR2A	chr20:25762477-25762525	Gliobla	brain:	n/a	n/a
25	POLR2A	chr20:25762318-25762342	Gliobla	brain:	n/a	n/a
26	POU2F2	chr20:25765578-25766052	GM12878	blood:	n/a	chr20:25765652-25765662 chr20:25765653-25765662 chr20:25765652-25765662 chr20:25765654-25765661
27	POU2F2	chr20:25763487-25763840	GM12878	blood:	n/a	n/a
28	RXRA	chr20:25765524-25765785	HepG2	liver:	n/a	n/a
29	RXRA	chr20:25760548-25760775	HepG2	liver:	n/a	n/a
30	RXRA	chr20:25761997-25762823	HepG2	liver:	n/a	n/a
31	SIX5	chr20:25762095-25762310	K562	blood:	n/a	n/a
32	SP1	chr20:25762025-25762099	HepG2	liver:	n/a	n/a
33	SP1	chr20:25762161-25762532	HepG2	liver:	n/a	chr20:25762209-25762218
34	SP1	chr20:25760853-25761115	HepG2	liver:	n/a	n/a
35	TCF12	chr20:25764189-25764405	HepG2	liver:	n/a	n/a
36	USF1	chr20:25756864-25756983	HepG2	liver:	n/a	n/a
37	USF1	chr20:25762231-25762396	HepG2	liver:	n/a	n/a
38	USF1	chr20:25764315-25764433	HepG2	liver:	n/a	n/a
39	USF1	chr20:25761200-25761374	HepG2	liver:	n/a	chr20:25761298-25761309
40	ZBTB33	chr20:25756711-25756888	HepG2	liver:	n/a	n/a
41	ZBTB33	chr20:25764201-25764341	HepG2	liver:	n/a	n/a
42	ZBTB33	chr20:25764963-25765233	GM12878	blood:	n/a	n/a
43	ZBTB33	chr20:25763112-25763435	HepG2	liver:	n/a	n/a
44	ZBTB33	chr20:25762055-25762577	GM12878	blood:	n/a	n/a
45	ZBTB33	chr20:25762046-25762300	HepG2	liver:	n/a	n/a
46	ZBTB33	chr20:25765495-25766084	HepG2	liver:	n/a	n/a
47	ZBTB33	chr20:25761545-25761869	GM12878	blood:	n/a	n/a
48	ZBTB33	chr20:25761677-25761785	HepG2	liver:	n/a	n/a
49	ZBTB33	chr20:25762241-25762353	HepG2	liver:	n/a	n/a
50	ZBTB33	chr20:25762091-25762619	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
FAM182B	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555655729	chr20:25756625-25756626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs73347187	chr20:25756635-25756636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs572079676	chr20:25756656-25756657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111524378	chr20:25756668-25756669	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs143544866	chr20:25756707-25756708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs143425915	chr20:25756725-25756726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs541093379	chr20:25756733-25756734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs564597108	chr20:25756737-25756738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs200995164	chr20:25756752-25756753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201110842	chr20:25756767-25756768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs202172632	chr20:25756790-25756791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139371213	chr20:25756806-25756807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs185891699	chr20:25756833-25756834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs543902028	chr20:25756840-25756841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs563432293	chr20:25756849-25756850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529119629	chr20:25756850-25756851	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs80117693	chr20:25756854-25756855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201994162	chr20:25756855-25756856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs189496408	chr20:25756875-25756876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201602906	chr20:25756879-25756880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs202178686	chr20:25756899-25756900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200401424	chr20:25756901-25756902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201095668	chr20:25756914-25756915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549273000	chr20:25756936-25756937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs181837155	chr20:25756947-25756948	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs62213507	chr20:25756966-25756967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs76939183	chr20:25757017-25757018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35454294	chr20:25757019-25757020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371729956	chr20:25757054-25757055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368820653	chr20:25757055-25757056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551128754	chr20:25757058-25757059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571314605	chr20:25757069-25757070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539458502	chr20:25757071-25757072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536697278	chr20:25757087-25757088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2424735	chr20:25757104-25757105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142082259	chr20:25757113-25757114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535672789	chr20:25757124-25757125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2995864	chr20:25757171-25757172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572691444	chr20:25757217-25757218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113422188	chr20:25757220-25757221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370299389	chr20:25757235-25757236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557821640	chr20:25757278-25757279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200714131	chr20:25757334-25757335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577978027	chr20:25757348-25757349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139269602	chr20:25757355-25757356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78444696	chr20:25757356-25757357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369614426	chr20:25757387-25757388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191918224	chr20:25757395-25757396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200741983	chr20:25757915-25757916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs201745067	chr20:25757916-25757917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25757000-25757400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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