Variant report

Variant	nsv585856
Chromosome Location	chr20:26300992-26318279
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: 2933 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:2933 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60498136	chr20:26301004-26301005	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs76987777	chr20:26301054-26301055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs78522394	chr20:26301063-26301064	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112654485	chr20:26301077-26301078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs564581473	chr20:26301079-26301080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs6107181	chr20:26301088-26301089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs188670186	chr20:26301090-26301091	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201666222	chr20:26301099-26301100	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113595247	chr20:26301106-26301107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs199865346	chr20:26301113-26301114	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201237911	chr20:26301126-26301127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs201892887	chr20:26301137-26301138	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs77338662	chr20:26301138-26301139	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs543763001	chr20:26301174-26301175	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs80067945	chr20:26301189-26301190	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75711357	chr20:26301190-26301191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs201713339	chr20:26301215-26301216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200504241	chr20:26301220-26301221	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560663189	chr20:26301225-26301226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529710437	chr20:26301230-26301231	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201594045	chr20:26301234-26301235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566910491	chr20:26301236-26301237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367590455	chr20:26301264-26301265	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79635455	chr20:26301268-26301269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533979956	chr20:26301275-26301276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200313211	chr20:26301297-26301298	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113027504	chr20:26301307-26301308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74503030	chr20:26301324-26301325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76162242	chr20:26301331-26301332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555327511	chr20:26301342-26301343	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200748346	chr20:26301382-26301383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs36180629	chr20:26301407-26301408	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs181098325	chr20:26301410-26301411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201680410	chr20:26301426-26301427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113283417	chr20:26301430-26301431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112686390	chr20:26301433-26301434	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs372200559	chr20:26301438-26301439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112058029	chr20:26301447-26301448	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs376470697	chr20:26301459-26301460	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs200842432	chr20:26301467-26301468	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs372612056	chr20:26301468-26301469	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs552047212	chr20:26301479-26301480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs377271886	chr20:26301480-26301481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112928514	chr20:26301482-26301483	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs200060532	chr20:26301487-26301488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200870888	chr20:26301490-26301491	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537451956	chr20:26301494-26301495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs201382869	chr20:26301495-26301496	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs200176318	chr20:26301505-26301506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200889515	chr20:26301515-26301516	Weak transcription 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:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26293800-26304400	Weak transcription	NH-A	brain
2	chr20:26293800-26309600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:26297000-26301200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr20:26298200-26309600	Weak transcription	K562	blood
5	chr20:26300000-26301400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr20:26300200-26301000	Weak transcription	Fetal Kidney	kidney
7	chr20:26300400-26302600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr20:26301200-26301400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr20:26301200-26301400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
10	chr20:26301200-26301400	ZNF genes & repeats	Fetal Kidney	kidney
11	chr20:26301200-26301600	ZNF genes & repeats	HUVEC	blood vessel
12	chr20:26301400-26302600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr20:26302400-26302600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr20:26302400-26303000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:26302600-26303000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr20:26302600-26303000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
17	chr20:26302600-26303000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr20:26302600-26303000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
19	chr20:26302600-26303000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr20:26302600-26303000	ZNF genes & repeats	Brain Substantia Nigra	brain
21	chr20:26302600-26303000	ZNF genes & repeats	Colonic Mucosa	Colon
22	chr20:26302800-26303000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
23	chr20:26303000-26304000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr20:26303000-26306800	Weak transcription	Brain Substantia Nigra	brain
25	chr20:26303000-26308800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:26303000-26308800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr20:26303000-26308800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr20:26303000-26308800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr20:26303000-26308800	Weak transcription	Colonic Mucosa	Colon
30	chr20:26304000-26306200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr20:26304000-26308800	Weak transcription	HSMMtube	muscle
32	chr20:26304200-26305800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr20:26304400-26304600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
34	chr20:26304400-26304600	ZNF genes & repeats	NH-A	brain
35	chr20:26304600-26305800	Weak transcription	NH-A	brain
36	chr20:26304800-26305800	ZNF genes & repeats	Dnd41	blood
37	chr20:26305200-26305400	ZNF genes & repeats	HUVEC	blood vessel
38	chr20:26305400-26306800	Weak transcription	HUVEC	blood vessel
39	chr20:26305800-26306000	ZNF genes & repeats	NH-A	brain
40	chr20:26305800-26306800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr20:26306000-26306800	Weak transcription	NH-A	brain
42	chr20:26306600-26307400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr20:26306800-26307000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr20:26306800-26307000	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr20:26306800-26307000	ZNF genes & repeats	HUVEC	blood vessel
46	chr20:26306800-26307000	ZNF genes & repeats	NH-A	brain
47	chr20:26306800-26307200	ZNF genes & repeats	Fetal Brain Male	brain
48	chr20:26306800-26307200	Active TSS	Right Atrium	heart
49	chr20:26307000-26307400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
50	chr20:26307000-26308600	Weak transcription	Aorta	Aorta

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