Variant report

Variant	nsv585831
Chromosome Location	chr20:26293985-26318279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:21530746..21532374-chr20:26317917..26320539,2	MCF-7	breast:

Extended variants
information (count: 3809 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:3809 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11697676	chr20:26293985-26293986	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs561718847	chr20:26293988-26293989	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs200672753	chr20:26293999-26294000	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs6051300	chr20:26294010-26294011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6138860	chr20:26294014-26294015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112174928	chr20:26294058-26294059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182993676	chr20:26294080-26294081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112183072	chr20:26294083-26294084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199593900	chr20:26294100-26294101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112937648	chr20:26294116-26294117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200707787	chr20:26294156-26294157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570596479	chr20:26294182-26294183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201640048	chr20:26294183-26294184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200200583	chr20:26294192-26294193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539621318	chr20:26294231-26294232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200741031	chr20:26294246-26294247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575752407	chr20:26294273-26294274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549667939	chr20:26294285-26294286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112886418	chr20:26294291-26294292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201757893	chr20:26294307-26294308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180775928	chr20:26294339-26294340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574828934	chr20:26294355-26294356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199849446	chr20:26294363-26294364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555426942	chr20:26294371-26294372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113979757	chr20:26294483-26294484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201164969	chr20:26294504-26294505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111321683	chr20:26294559-26294560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141224652	chr20:26294591-26294592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188104931	chr20:26294609-26294610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202213501	chr20:26294730-26294731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144961976	chr20:26294732-26294733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200058046	chr20:26294794-26294795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112921661	chr20:26294817-26294818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62198441	chr20:26294867-26294868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62198442	chr20:26294873-26294874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62198443	chr20:26294887-26294888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201953848	chr20:26294893-26294894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113058344	chr20:26294910-26294911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201190530	chr20:26294925-26294926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201974062	chr20:26294927-26294928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572053101	chr20:26294928-26294929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200399587	chr20:26294946-26294947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534748503	chr20:26294950-26294951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201154649	chr20:26294963-26294964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113025921	chr20:26295021-26295022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557881707	chr20:26295037-26295038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6051301	chr20:26295069-26295070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6051302	chr20:26295073-26295074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200564619	chr20:26295094-26295095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199809547	chr20:26295108-26295109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
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

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26293200-26294000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
2	chr20:26293200-26294000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr20:26293200-26294000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
4	chr20:26293400-26294000	Flanking Active TSS	Dnd41	blood
5	chr20:26293800-26294000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr20:26293800-26295400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr20:26293800-26295400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr20:26293800-26295600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr20:26293800-26295600	Weak transcription	HUVEC	blood vessel
10	chr20:26293800-26295800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr20:26293800-26296600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr20:26293800-26297800	Weak transcription	K562	blood
13	chr20:26293800-26300000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr20:26293800-26300000	Weak transcription	Colon Smooth Muscle	Colon
15	chr20:26293800-26300000	Weak transcription	Fetal Kidney	kidney
16	chr20:26293800-26300000	Weak transcription	Left Ventricle	heart
17	chr20:26293800-26304400	Weak transcription	NH-A	brain
18	chr20:26293800-26309600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr20:26294000-26294200	Weak transcription	Stomach Mucosa	stomach
20	chr20:26294000-26294200	Enhancers	Dnd41	blood
21	chr20:26294000-26294600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr20:26294000-26295400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr20:26294000-26295400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr20:26294000-26300000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr20:26294200-26295400	Weak transcription	Dnd41	blood
26	chr20:26295400-26296000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr20:26295400-26296000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr20:26295400-26296000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr20:26295400-26296400	ZNF genes & repeats	Dnd41	blood
30	chr20:26295400-26297000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr20:26295600-26296400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr20:26295600-26296800	ZNF genes & repeats	HUVEC	blood vessel
33	chr20:26295800-26296600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
34	chr20:26296600-26296800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr20:26296600-26296800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr20:26297000-26301200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr20:26297800-26298200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr20:26297800-26298200	ZNF genes & repeats	K562	blood
39	chr20:26298200-26309600	Weak transcription	K562	blood
40	chr20:26299600-26300000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr20:26299800-26300400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr20:26299800-26300400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr20:26300000-26300200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
44	chr20:26300000-26300200	ZNF genes & repeats	Fetal Kidney	kidney
45	chr20:26300000-26300200	ZNF genes & repeats	Left Ventricle	heart
46	chr20:26300000-26300400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr20:26300000-26300400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
48	chr20:26300000-26300400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr20:26300000-26300400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr20:26300000-26300400	ZNF genes & repeats	Liver	Liver

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