Variant report

Variant	esv3386431
Chromosome Location	chr20:25759052-25772550
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	CTCF	chr20:25770966-25771003	Lung_OC	lung:	n/a	n/a
2	CTCF	chr20:25770956-25770960	Lung_OC	lung:	n/a	n/a
3	EP300	chr20:25765241-25765559	GM12878	blood:	n/a	n/a
4	FOSL2	chr20:25763230-25763655	HepG2	liver:	n/a	n/a
5	FOSL2	chr20:25767104-25767441	HepG2	liver:	n/a	n/a
6	FOSL2	chr20:25765649-25766105	HepG2	liver:	n/a	n/a
7	FOSL2	chr20:25765556-25766377	HepG2	liver:	n/a	n/a
8	FOSL2	chr20:25763400-25763874	HepG2	liver:	n/a	n/a
9	FOSL2	chr20:25768465-25768748	HepG2	liver:	n/a	n/a
10	FOSL2	chr20:25767462-25767853	HepG2	liver:	n/a	n/a
11	FOSL2	chr20:25764100-25764375	HepG2	liver:	n/a	n/a
12	FOSL2	chr20:25764858-25765292	HepG2	liver:	n/a	n/a
13	FOSL2	chr20:25765008-25765570	HepG2	liver:	n/a	n/a
14	FOXA1	chr20:25765361-25765729	HepG2	liver:	n/a	n/a
15	HEY1	chr20:25772503-25772933	K562	blood:	n/a	n/a
16	IRF4	chr20:25762197-25762531	GM12878	blood:	n/a	n/a
17	JUND	chr20:25765293-25765480	HepG2	liver:	n/a	n/a
18	JUND	chr20:25762107-25762555	HepG2	liver:	n/a	n/a
19	JUND	chr20:25765691-25766193	HepG2	liver:	n/a	n/a
20	JUND	chr20:25763520-25763767	HepG2	liver:	n/a	n/a
21	PAX5	chr20:25763401-25763960	GM12878	blood:	n/a	chr20:25763634-25763643
22	PAX5	chr20:25761512-25761937	GM12878	blood:	n/a	n/a
23	PAX5	chr20:25766801-25766982	GM12878	blood:	n/a	n/a
24	PAX5	chr20:25765744-25766247	GM12878	blood:	n/a	n/a
25	PAX5	chr20:25762090-25762628	GM12878	blood:	n/a	n/a
26	PBX3	chr20:25765824-25765977	GM12878	blood:	n/a	n/a
27	POLR2A	chr20:25762429-25762475	Gliobla	brain:	n/a	n/a
28	POLR2A	chr20:25762477-25762525	Gliobla	brain:	n/a	n/a
29	POLR2A	chr20:25761970-25762333	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr20:25772540-25772985	A549	lung:	n/a	n/a
31	POLR2A	chr20:25762318-25762342	Gliobla	brain:	n/a	n/a
32	POU2F2	chr20:25763487-25763840	GM12878	blood:	n/a	n/a
33	POU2F2	chr20:25765578-25766052	GM12878	blood:	n/a	chr20:25765652-25765662 chr20:25765653-25765662 chr20:25765652-25765662 chr20:25765654-25765661
34	RXRA	chr20:25760548-25760775	HepG2	liver:	n/a	n/a
35	RXRA	chr20:25761997-25762823	HepG2	liver:	n/a	n/a
36	RXRA	chr20:25765524-25765785	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr20:25766016-25766131	HepG2	liver:	n/a	n/a
38	SIX5	chr20:25765832-25766030	K562	blood:	n/a	chr20:25765971-25765987
39	SIX5	chr20:25762095-25762310	K562	blood:	n/a	n/a
40	SP1	chr20:25762025-25762099	HepG2	liver:	n/a	n/a
41	SP1	chr20:25760853-25761115	HepG2	liver:	n/a	n/a
42	SP1	chr20:25762161-25762532	HepG2	liver:	n/a	chr20:25762209-25762218
43	SP1	chr20:25771286-25771581	GM12878	blood:	n/a	n/a
44	TCF12	chr20:25764189-25764405	HepG2	liver:	n/a	n/a
45	TCF12	chr20:25765676-25765911	GM12878	blood:	n/a	n/a
46	USF1	chr20:25765843-25765994	HepG2	liver:	n/a	n/a
47	USF1	chr20:25764315-25764433	HepG2	liver:	n/a	n/a
48	USF1	chr20:25761200-25761374	HepG2	liver:	n/a	chr20:25761298-25761309
49	USF1	chr20:25768652-25768822	HepG2	liver:	n/a	n/a
50	USF1	chr20:25762231-25762396	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182B-8	chr20:25767381-25767624	NONHSAT079187

Variant related genes	Relation type
FAM182B	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372904354	chr20:25760528-25760529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs77313610	chr20:25760538-25760539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs369308182	chr20:25760544-25760545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201645598	chr20:25760560-25760561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs200034645	chr20:25760564-25760565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs34614356	chr20:25760577-25760578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs369305869	chr20:25760599-25760600	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372755811	chr20:25760616-25760617	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374825573	chr20:25760624-25760625	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs6138663	chr20:25760629-25760630	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs199866582	chr20:25760637-25760638	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs200107984	chr20:25760654-25760655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs373527021	chr20:25760679-25760680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs56037867	chr20:25760684-25760685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs56078414	chr20:25760689-25760690	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs376949586	chr20:25760707-25760708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs62213543	chr20:25760747-25760748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs35798366	chr20:25760748-25760749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs34265331	chr20:25760751-25760752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs35242824	chr20:25760767-25760768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200483644	chr20:25760775-25760776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs35060111	chr20:25760778-25760779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs373958150	chr20:25760785-25760786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs35772726	chr20:25760854-25760855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs201960024	chr20:25760858-25760859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs111630067	chr20:25760879-25760880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs200422485	chr20:25760892-25760893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs201213377	chr20:25767382-25767383	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs6037239	chr20:25767466-25767467	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs62212618	chr20:25767475-25767476	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
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:0 , 50 per page) page:

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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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