Variant report

Variant	esv3358537
Chromosome Location	chr20:26040952-26045150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr20:26041793-26041988	GM12878	blood:	n/a	n/a
2	CEBPB	chr20:26041786-26041946	K562	blood:	n/a	n/a
3	CTCF	chr20:26041346-26041380	GM13976	blood:	n/a	n/a
4	CTCF	chr20:26042994-26043053	GM10248	blood:	n/a	chr20:26043006-26043019
5	EP300	chr20:26041722-26042052	GM12878	blood:	n/a	n/a
6	EP300	chr20:26041768-26041935	GM12878	blood:	n/a	n/a
7	FOSL2	chr20:26042056-26042336	HepG2	liver:	n/a	n/a
8	FOSL2	chr20:26042821-26043180	HepG2	liver:	n/a	n/a
9	FOSL2	chr20:26043665-26043985	HepG2	liver:	n/a	n/a
10	FOSL2	chr20:26043543-26044139	HepG2	liver:	n/a	n/a
11	FOSL2	chr20:26042030-26042385	HepG2	liver:	n/a	n/a
12	FOSL2	chr20:26044332-26044569	HepG2	liver:	n/a	n/a
13	FOSL2	chr20:26041784-26042011	HepG2	liver:	n/a	n/a
14	HEY1	chr20:26044226-26044534	HepG2	liver:	n/a	n/a
15	HEY1	chr20:26044283-26044415	HepG2	liver:	n/a	n/a
16	HEY1	chr20:26041779-26041958	K562	blood:	n/a	n/a
17	HEY1	chr20:26044209-26044639	K562	blood:	n/a	n/a
18	HEY1	chr20:26044066-26044580	K562	blood:	n/a	n/a
19	HEY1	chr20:26042189-26042400	K562	blood:	n/a	n/a
20	IRF4	chr20:26042171-26042451	GM12878	blood:	n/a	n/a
21	JUND	chr20:26041797-26041944	HepG2	liver:	n/a	n/a
22	JUND	chr20:26041815-26041922	HepG2	liver:	n/a	n/a
23	JUND	chr20:26042239-26042385	HepG2	liver:	n/a	n/a
24	MYC	chr20:26044357-26044447	K562	blood:	n/a	n/a
25	PAX5	chr20:26043782-26044131	GM12878	blood:	n/a	n/a
26	PAX5	chr20:26041115-26041288	GM12878	blood:	n/a	n/a
27	PAX5	chr20:26041798-26041937	GM12878	blood:	n/a	n/a
28	PAX5	chr20:26042172-26042425	GM12878	blood:	n/a	n/a
29	PAX5	chr20:26041746-26042320	GM12878	blood:	n/a	n/a
30	PBX3	chr20:26041813-26041928	GM12878	blood:	n/a	n/a
31	POLR2A	chr20:26044123-26044567	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr20:26044222-26044510	GM12878	blood:	n/a	n/a
33	POLR2A	chr20:26044262-26044372	A549	lung:	n/a	n/a
34	POLR2A	chr20:26044226-26044384	A549	lung:	n/a	n/a
35	POLR2A	chr20:26044391-26044487	A549	lung:	n/a	n/a
36	POLR2A	chr20:26044401-26044494	A549	lung:	n/a	n/a
37	POLR2A	chr20:26044220-26044602	A549	lung:	n/a	n/a
38	POLR2A	chr20:26044667-26044698	K562	blood:	n/a	n/a
39	POLR2A	chr20:26044331-26044515	HepG2	liver:	n/a	n/a
40	POLR2A	chr20:26044149-26044336	K562	blood:	n/a	n/a
41	POLR2A	chr20:26044219-26044548	GM12878	blood:	n/a	n/a
42	POU2F2	chr20:26041813-26041929	GM12878	blood:	n/a	n/a
43	RXRA	chr20:26041619-26042000	HepG2	liver:	n/a	n/a
44	RXRA	chr20:26041787-26041951	HepG2	liver:	n/a	n/a
45	SIN3AK20	chr20:26041792-26041944	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr20:26042182-26042287	HepG2	liver:	n/a	n/a
47	SIN3AK20	chr20:26044228-26044339	HepG2	liver:	n/a	n/a
48	SIN3AK20	chr20:26041818-26041916	HepG2	liver:	n/a	n/a
49	SIX5	chr20:26041642-26041961	K562	blood:	n/a	n/a
50	SIX5	chr20:26041656-26041952	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
FAM182A	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367556870	chr20:26041853-26041854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs370277328	chr20:26041856-26041857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113989380	chr20:26041944-26041945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs6115498	chr20:26042202-26042203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs147875992	chr20:26042844-26042845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs537130493	chr20:26042902-26042903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs556824376	chr20:26042952-26042953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs199926384	chr20:26042966-26042967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201015349	chr20:26043022-26043023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs570260213	chr20:26043036-26043037	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs367651745	chr20:26043053-26043054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs375086666	chr20:26043143-26043144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs369908742	chr20:26043176-26043177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs201822848	chr20:26043646-26043647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs4637198	chr20:26043802-26043803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200256541	chr20:26044048-26044049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201406223	chr20:26044049-26044050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs58856345	chr20:26044679-26044680	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
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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