Variant report

Variant	nsv585818
Chromosome Location	chr20:26275052-26318279
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: 5839 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:5839 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34797015	chr20:26275052-26275053	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs57486532	chr20:26275054-26275055	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77994791	chr20:26275062-26275063	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377742544	chr20:26275071-26275072	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557800456	chr20:26275078-26275079	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113819741	chr20:26275096-26275097	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111279116	chr20:26275106-26275107	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577443003	chr20:26275118-26275119	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543195511	chr20:26275123-26275124	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368175609	chr20:26275127-26275128	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200394134	chr20:26275132-26275133	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201617988	chr20:26275138-26275139	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201262675	chr20:26275139-26275140	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112164863	chr20:26275155-26275156	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199549744	chr20:26275165-26275166	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6084105	chr20:26275168-26275169	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111568703	chr20:26275172-26275173	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34631914	chr20:26275173-26275174	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7352132	chr20:26275176-26275177	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559318902	chr20:26275181-26275182	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112996233	chr20:26275182-26275183	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113036165	chr20:26275187-26275188	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6138849	chr20:26275191-26275192	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201720753	chr20:26275207-26275208	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111730101	chr20:26275218-26275219	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs571351963	chr20:26275219-26275220	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs71225223	chr20:26275229-26275230	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs533608231	chr20:26275238-26275239	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs112053405	chr20:26275240-26275241	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs550347557	chr20:26275244-26275245	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs182215276	chr20:26275253-26275254	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs6138850	chr20:26275257-26275258	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs139221425	chr20:26275264-26275265	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs1686909	chr20:26275265-26275266	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201614021	chr20:26275266-26275267	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs199656977	chr20:26275267-26275268	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200560623	chr20:26275269-26275270	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs62198406	chr20:26275275-26275276	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs113429512	chr20:26275281-26275282	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs8183287	chr20:26275288-26275289	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112412813	chr20:26275291-26275292	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112433702	chr20:26275307-26275308	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs113987045	chr20:26275315-26275316	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149559879	chr20:26275321-26275322	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs202236378	chr20:26275325-26275326	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200154333	chr20:26275331-26275332	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536156899	chr20:26275332-26275333	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs78632501	chr20:26275339-26275340	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs76678589	chr20:26275340-26275341	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs71265311	chr20:26275345-26275346	Enhancers ZNF genes & repeats	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:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26270400-26275200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr20:26274400-26275400	ZNF genes & repeats	NH-A	brain
3	chr20:26274400-26279000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr20:26274600-26278000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:26275000-26275200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:26275000-26275400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr20:26275000-26275400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
8	chr20:26275000-26275400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
9	chr20:26275000-26275400	ZNF genes & repeats	Dnd41	blood
10	chr20:26275000-26279400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr20:26275200-26275400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr20:26275200-26275800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr20:26275400-26276800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr20:26275400-26276800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr20:26275800-26278600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr20:26276000-26276400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr20:26276000-26277600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr20:26276800-26277200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr20:26276800-26278000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr20:26277000-26277200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr20:26277200-26278600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr20:26277200-26278800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr20:26277400-26278800	Enhancers	Dnd41	blood
24	chr20:26277600-26278800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr20:26278000-26278400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr20:26278000-26280400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:26278400-26279000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr20:26278600-26278800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr20:26278600-26279200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr20:26278800-26279000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr20:26278800-26279200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr20:26278800-26280200	Weak transcription	Dnd41	blood
33	chr20:26279000-26279200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr20:26279000-26279200	ZNF genes & repeats	HepG2	liver
35	chr20:26279400-26280600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr20:26279400-26285400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr20:26280200-26280400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr20:26280200-26280400	ZNF genes & repeats	HepG2	liver
39	chr20:26280200-26280800	ZNF genes & repeats	Dnd41	blood
40	chr20:26280200-26281000	ZNF genes & repeats	HUVEC	blood vessel
41	chr20:26280400-26280600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr20:26280400-26280800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr20:26280800-26285600	Weak transcription	Dnd41	blood
44	chr20:26281000-26285400	Weak transcription	HUVEC	blood vessel
45	chr20:26285000-26285400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr20:26285200-26285600	Weak transcription	HepG2	liver
47	chr20:26285400-26285600	Weak transcription	K562	blood
48	chr20:26285400-26286200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr20:26285400-26286200	ZNF genes & repeats	HUVEC	blood vessel
50	chr20:26285400-26287600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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