Variant report

Variant	esv15131
Chromosome Location	chr20:26038378-26047977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 50 per page) page: 1 2 3

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	chr20:26040159-26040181	K562	blood:	n/a	n/a
4	CTCF	chr20:26039870-26040409	K562	blood:	n/a	n/a
5	CTCF	chr20:26042994-26043053	GM10248	blood:	n/a	chr20:26043006-26043019
6	CTCF	chr20:26045269-26045273	LNCaP	prostate:	n/a	n/a
7	CTCF	chr20:26040012-26040263	K562	blood:	n/a	n/a
8	CTCF	chr20:26041346-26041380	GM13976	blood:	n/a	n/a
9	CTCF	chr20:26045218-26045235	LNCaP	prostate:	n/a	n/a
10	CTCF	chr20:26045593-26045679	LNCaP	prostate:	n/a	chr20:26045642-26045650
11	EBF1	chr20:26039481-26039663	GM12878	blood:	n/a	n/a
12	EP300	chr20:26041722-26042052	GM12878	blood:	n/a	n/a
13	EP300	chr20:26041768-26041935	GM12878	blood:	n/a	n/a
14	FOSL2	chr20:26042056-26042336	HepG2	liver:	n/a	n/a
15	FOSL2	chr20:26043665-26043985	HepG2	liver:	n/a	n/a
16	FOSL2	chr20:26040314-26040777	HepG2	liver:	n/a	n/a
17	FOSL2	chr20:26042030-26042385	HepG2	liver:	n/a	n/a
18	FOSL2	chr20:26043543-26044139	HepG2	liver:	n/a	n/a
19	FOSL2	chr20:26041784-26042011	HepG2	liver:	n/a	n/a
20	FOSL2	chr20:26039478-26040161	HepG2	liver:	n/a	n/a
21	FOSL2	chr20:26044332-26044569	HepG2	liver:	n/a	n/a
22	FOSL2	chr20:26042821-26043180	HepG2	liver:	n/a	n/a
23	HEY1	chr20:26044283-26044415	HepG2	liver:	n/a	n/a
24	HEY1	chr20:26044209-26044639	K562	blood:	n/a	n/a
25	HEY1	chr20:26039860-26040188	K562	blood:	n/a	n/a
26	HEY1	chr20:26044066-26044580	K562	blood:	n/a	n/a
27	HEY1	chr20:26042189-26042400	K562	blood:	n/a	n/a
28	HEY1	chr20:26039440-26039749	K562	blood:	n/a	n/a
29	HEY1	chr20:26039440-26039711	K562	blood:	n/a	n/a
30	HEY1	chr20:26039903-26040121	K562	blood:	n/a	n/a
31	HEY1	chr20:26041779-26041958	K562	blood:	n/a	n/a
32	HEY1	chr20:26044226-26044534	HepG2	liver:	n/a	n/a
33	IRF4	chr20:26042171-26042451	GM12878	blood:	n/a	n/a
34	JUND	chr20:26042239-26042385	HepG2	liver:	n/a	n/a
35	JUND	chr20:26039510-26039632	HepG2	liver:	n/a	n/a
36	JUND	chr20:26039869-26040043	HepG2	liver:	n/a	n/a
37	JUND	chr20:26041797-26041944	HepG2	liver:	n/a	n/a
38	JUND	chr20:26041815-26041922	HepG2	liver:	n/a	n/a
39	MYC	chr20:26045221-26045297	HUVEC	blood vessel:	n/a	n/a
40	MYC	chr20:26045330-26045377	HUVEC	blood vessel:	n/a	n/a
41	MYC	chr20:26044357-26044447	K562	blood:	n/a	n/a
42	PAX5	chr20:26041798-26041937	GM12878	blood:	n/a	n/a
43	PAX5	chr20:26042172-26042425	GM12878	blood:	n/a	n/a
44	PAX5	chr20:26041115-26041288	GM12878	blood:	n/a	n/a
45	PAX5	chr20:26041746-26042320	GM12878	blood:	n/a	n/a
46	PAX5	chr20:26039362-26039821	GM12878	blood:	n/a	n/a
47	PAX5	chr20:26043782-26044131	GM12878	blood:	n/a	n/a
48	PAX5	chr20:26039505-26039663	GM12878	blood:	n/a	n/a
49	PBX3	chr20:26041813-26041928	GM12878	blood:	n/a	n/a
50	POLR2A	chr20:26044222-26044510	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182A-4	chr20:26046283-26046420	ENSG00000125804.9
2	lnc-FAM182A-4	chr20:26047198-26047273	ENSG00000125804.9
3	lnc-FAM182A-4	chr20:26047620-26047810	ENSG00000125804.9
4	lnc-FAM182A-4	chr20:26040299-26040496	ENSG00000125804.9

No data

Variant related genes	Relation type
FAM182A	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191095384	chr20:26039438-26039439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs201191709	chr20:26039580-26039581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs367556870	chr20:26041853-26041854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs370277328	chr20:26041856-26041857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113989380	chr20:26041944-26041945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs6115498	chr20:26042202-26042203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147875992	chr20:26042844-26042845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs537130493	chr20:26042902-26042903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556824376	chr20:26042952-26042953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs199926384	chr20:26042966-26042967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201015349	chr20:26043022-26043023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs570260213	chr20:26043036-26043037	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs367651745	chr20:26043053-26043054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs375086666	chr20:26043143-26043144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs369908742	chr20:26043176-26043177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201822848	chr20:26043646-26043647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs4637198	chr20:26043802-26043803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200256541	chr20:26044048-26044049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201406223	chr20:26044049-26044050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs58856345	chr20:26044679-26044680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs374562490	chr20:26045595-26045596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs111722870	chr20:26045608-26045609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555745476	chr20:26045614-26045615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs202114290	chr20:26045632-26045633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs111748683	chr20:26045759-26045760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs6084053	chr20:26045786-26045787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs200635903	chr20:26046379-26046380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs201507745	chr20:26046380-26046381	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs199646934	chr20:26046385-26046386	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs182129621	chr20:26046390-26046391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs186449509	chr20:26046416-26046417	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs199990892	chr20:26047634-26047635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs200762590	chr20:26047653-26047654	Inactive region	lncRNA	n/a	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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