Variant report

Variant	nsv585801
Chromosome Location	chr20:26271193-26318279
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: 6348 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:6348 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6115606	chr20:26271193-26271194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35758432	chr20:26271196-26271197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35267513	chr20:26271199-26271200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563291736	chr20:26271203-26271204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58245335	chr20:26271229-26271230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs202232643	chr20:26271251-26271252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78360557	chr20:26271256-26271257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75918738	chr20:26271259-26271260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75401505	chr20:26271265-26271266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549221420	chr20:26271268-26271269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78076834	chr20:26271271-26271272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565546521	chr20:26271277-26271278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534574418	chr20:26271279-26271280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76298422	chr20:26271280-26271281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71658713	chr20:26271282-26271283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146808145	chr20:26271283-26271284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79445593	chr20:26271284-26271285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71658714	chr20:26271287-26271288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540084018	chr20:26271288-26271289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188244643	chr20:26271297-26271298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78746101	chr20:26271301-26271302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75400170	chr20:26271302-26271303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77121908	chr20:26271304-26271305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58374135	chr20:26271306-26271307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115824730	chr20:26271308-26271309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78868409	chr20:26271329-26271330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74606610	chr20:26271336-26271337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75552684	chr20:26271338-26271339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75154815	chr20:26271344-26271345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568303486	chr20:26271346-26271347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76538005	chr20:26271347-26271348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76218609	chr20:26271350-26271351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76545708	chr20:26271354-26271355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114388516	chr20:26271355-26271356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79504622	chr20:26271357-26271358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77999080	chr20:26271358-26271359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541400895	chr20:26271362-26271363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564451725	chr20:26271364-26271365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78646279	chr20:26271369-26271370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76403064	chr20:26271370-26271371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180769260	chr20:26271385-26271386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs66761656	chr20:26271418-26271419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184826473	chr20:26271424-26271425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202176019	chr20:26271426-26271427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199770127	chr20:26271457-26271458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111988728	chr20:26271483-26271484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563154185	chr20:26271485-26271486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529010635	chr20:26271494-26271495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549032980	chr20:26271499-26271500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112589141	chr20:26271514-26271515	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:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26265800-26274400	Weak transcription	NH-A	brain
2	chr20:26270400-26275000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr20:26270400-26275200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr20:26270600-26272000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr20:26270800-26275000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr20:26272000-26272800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr20:26272800-26275000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr20:26274400-26274800	ZNF genes & repeats	HUVEC	blood vessel
9	chr20:26274400-26275400	ZNF genes & repeats	NH-A	brain
10	chr20:26274400-26279000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr20:26274600-26274800	ZNF genes & repeats	HepG2	liver
12	chr20:26274600-26278000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr20:26275000-26275200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr20:26275000-26275400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr20:26275000-26275400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr20:26275000-26275400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
17	chr20:26275000-26275400	ZNF genes & repeats	Dnd41	blood
18	chr20:26275000-26279400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr20:26275200-26275400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr20:26275200-26275800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr20:26275400-26276800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr20:26275400-26276800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr20:26275800-26278600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr20:26276000-26276400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr20:26276000-26277600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr20:26276800-26277200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr20:26276800-26278000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr20:26277000-26277200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr20:26277200-26278600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr20:26277200-26278800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr20:26277400-26278800	Enhancers	Dnd41	blood
32	chr20:26277600-26278800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr20:26278000-26278400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr20:26278000-26280400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr20:26278400-26279000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr20:26278600-26278800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr20:26278600-26279200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr20:26278800-26279000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr20:26278800-26279200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr20:26278800-26280200	Weak transcription	Dnd41	blood
41	chr20:26279000-26279200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr20:26279000-26279200	ZNF genes & repeats	HepG2	liver
43	chr20:26279400-26280600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr20:26279400-26285400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr20:26280200-26280400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr20:26280200-26280400	ZNF genes & repeats	HepG2	liver
47	chr20:26280200-26280800	ZNF genes & repeats	Dnd41	blood
48	chr20:26280200-26281000	ZNF genes & repeats	HUVEC	blood vessel
49	chr20:26280400-26280600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr20:26280400-26280800	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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