Variant report

Variant	nsv585765
Chromosome Location	chr20:25927487-25950277
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	BCL3	chr20:25945773-25946163	GM12878	blood:	n/a	n/a
2	CEBPB	chr20:25933076-25933229	HepG2	liver:	n/a	chr20:25933144-25933155
3	CEBPB	chr20:25942443-25942488	A549	lung:	n/a	chr20:25942454-25942467 chr20:25942454-25942465
4	CEBPB	chr20:25942378-25942614	HepG2	liver:	n/a	chr20:25942454-25942467 chr20:25942454-25942465
5	CTCF	chr20:25944564-25944572	GM13977	blood:	n/a	n/a
6	CTCF	chr20:25944435-25944503	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr20:25944510-25944532	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr20:25931899-25931915	LNCaP	prostate:	n/a	n/a
9	FOXA1	chr20:25934647-25934893	T-47D	breast:	n/a	n/a
10	FOXA1	chr20:25934700-25934925	T-47D	breast:	n/a	n/a
11	GATA2	chr20:25942974-25943298	K562	blood:	n/a	n/a
12	GATA2	chr20:25943882-25944206	K562	blood:	n/a	chr20:25943937-25943958
13	GATA3	chr20:25934440-25934913	MCF-7	breast:	n/a	chr20:25934582-25934595
14	GATA3	chr20:25934515-25934795	MCF-7	breast:	n/a	chr20:25934582-25934595
15	GATA3	chr20:25934512-25934894	T-47D	breast:	n/a	chr20:25934582-25934595
16	GATA3	chr20:25934413-25935005	T-47D	breast:	n/a	chr20:25934582-25934595
17	GATA3	chr20:25934470-25934880	MCF-7	breast:	n/a	chr20:25934582-25934595
18	MAFF	chr20:25937839-25937995	HepG2	liver:	n/a	chr20:25937926-25937944 chr20:25937932-25937946
19	MAFK	chr20:25937893-25937986	HepG2	liver:	n/a	chr20:25937931-25937947 chr20:25937932-25937946 chr20:25937928-25937943 chr20:25937929-25937949
20	MAFK	chr20:25929463-25929603	HepG2	liver:	n/a	n/a
21	MAFK	chr20:25929516-25929567	HepG2	liver:	n/a	n/a
22	MAFK	chr20:25937351-25937437	HepG2	liver:	n/a	n/a
23	MAFK	chr20:25937941-25937978	HepG2	liver:	n/a	n/a
24	MAFK	chr20:25937288-25937477	HepG2	liver:	n/a	n/a
25	POLR2A	chr20:25942712-25942739	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr20:25945966-25946047	A549	lung:	n/a	n/a
27	POLR2A	chr20:25937190-25937294	Gliobla	brain:	n/a	n/a
28	POLR2A	chr20:25929523-25929812	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr20:25945888-25945912	A549	lung:	n/a	n/a
30	POLR2A	chr20:25944002-25944115	GM12878	blood:	n/a	n/a
31	TAL1	chr20:25943019-25943345	K562	blood:	n/a	n/a
32	TCF7L2	chr20:25934463-25934757	MCF-7	breast:	n/a	n/a
33	TEAD4	chr20:25942989-25943256	K562	blood:	n/a	n/a
34	ZBTB33	chr20:25943431-25943674	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182A-1	chr20:25945639-25949924	ENSG00000226203
2	lnc-FAM182B-10	chr20:25930172-25930528	NONHSAT079203
3	lnc-FAM182A-1	chr20:25943698-25943832	ENSG00000226203
4	lnc-FAM182A-1	chr20:25945639-25949923	XLOC_013502
5	lnc-FAM182B-11	chr20:25937427-25937691	NONHSAT079205
6	lnc-FAM182A-1	chr20:25936448-25936505	ENSG00000226203
7	lnc-FAM182A-1	chr20:25936722-25936846	XLOC_013502
8	lnc-FAM182B-11	chr20:25938891-25939167	NONHSAT079205
9	lnc-FAM182A-1	chr20:25936453-25936505	XLOC_013502
10	lnc-FAM182A-1	chr20:25943698-25943832	XLOC_013502
11	lnc-FAM182A-1	chr20:25936722-25936846	ENSG00000226203
12	lnc-FAM182B-10	chr20:25930850-25930935	NONHSAT079203

Variant related genes	Relation type
ENSG00000226203	TF binding region

Extended variants
information (count: 437 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6084020	chr20:25930193-25930194	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs6084021	chr20:25930199-25930200	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs187832616	chr20:25930237-25930238	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs6084022	chr20:25930248-25930249	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs6107109	chr20:25930266-25930267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs568962013	chr20:25930269-25930270	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs10084538	chr20:25930271-25930272	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs78723050	chr20:25930321-25930322	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs74479568	chr20:25930343-25930344	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs537528356	chr20:25930357-25930358	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs557544840	chr20:25930372-25930373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs574122343	chr20:25930374-25930375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs73599818	chr20:25930384-25930385	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs200084162	chr20:25930397-25930398	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs201034976	chr20:25930417-25930418	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs141344603	chr20:25930432-25930433	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs536946695	chr20:25930437-25930438	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs368445376	chr20:25930447-25930448	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs553660258	chr20:25930451-25930452	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs145578652	chr20:25930465-25930466	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs371119721	chr20:25930488-25930489	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs545462374	chr20:25930502-25930503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs374738177	chr20:25930528-25930529	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs62213573	chr20:25930854-25930855	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs142577743	chr20:25930877-25930878	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs567422553	chr20:25930902-25930903	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs59270874	chr20:25930927-25930928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs202051985	chr20:25930930-25930931	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs562904353	chr20:25931902-25931903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs539343060	chr20:25931912-25931913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs548192728	chr20:25933076-25933077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs73599827	chr20:25933078-25933079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs138099993	chr20:25933100-25933101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs189683855	chr20:25933103-25933104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs73599829	chr20:25933113-25933114	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs34502277	chr20:25933125-25933126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs73599830	chr20:25933141-25933142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs73104174	chr20:25933168-25933169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs534031113	chr20:25933169-25933170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs553808328	chr20:25933172-25933173	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs144888756	chr20:25933181-25933182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs373875538	chr20:25933182-25933183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs76356791	chr20:25933183-25933184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs77409020	chr20:25933193-25933194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs74990126	chr20:25933218-25933219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs79635229	chr20:25933220-25933221	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs369663887	chr20:25933229-25933230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs542008507	chr20:25934421-25934422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562088372	chr20:25934425-25934426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs200251279	chr20:25934436-25934437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25934800-25935200	Enhancers	Fetal Intestine Large	intestine
2	chr20:25934800-25935200	Enhancers	Fetal Intestine Small	intestine
3	chr20:25945800-25946200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr20:25946000-25946400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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