Variant report

Variant	nsv585857
Chromosome Location	chr20:26301302-26318279
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: 2907 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:2907 , 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	rs113027504	chr20:26301307-26301308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74503030	chr20:26301324-26301325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76162242	chr20:26301331-26301332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555327511	chr20:26301342-26301343	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200748346	chr20:26301382-26301383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36180629	chr20:26301407-26301408	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs181098325	chr20:26301410-26301411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201680410	chr20:26301426-26301427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113283417	chr20:26301430-26301431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs112686390	chr20:26301433-26301434	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs372200559	chr20:26301438-26301439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112058029	chr20:26301447-26301448	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs376470697	chr20:26301459-26301460	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs200842432	chr20:26301467-26301468	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372612056	chr20:26301468-26301469	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs552047212	chr20:26301479-26301480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs377271886	chr20:26301480-26301481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112928514	chr20:26301482-26301483	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200060532	chr20:26301487-26301488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs200870888	chr20:26301490-26301491	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs537451956	chr20:26301494-26301495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201382869	chr20:26301495-26301496	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs200176318	chr20:26301505-26301506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200889515	chr20:26301515-26301516	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs202003165	chr20:26301525-26301526	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557359465	chr20:26301535-26301536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs62200084	chr20:26301536-26301537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62200085	chr20:26301548-26301549	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs62200086	chr20:26301554-26301555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs62200087	chr20:26301564-26301565	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs62200101	chr20:26301569-26301570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201381705	chr20:26301575-26301576	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201983445	chr20:26301577-26301578	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs113431815	chr20:26301580-26301581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs567784192	chr20:26301590-26301591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200414150	chr20:26301597-26301598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs574024006	chr20:26301599-26301600	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs201413829	chr20:26301600-26301601	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs199605255	chr20:26301604-26301605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112416474	chr20:26301605-26301606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62200103	chr20:26301611-26301612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113983243	chr20:26301636-26301637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111503609	chr20:26301638-26301639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376589279	chr20:26301649-26301650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62200104	chr20:26301652-26301653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201407768	chr20:26301654-26301655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62200105	chr20:26301659-26301660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372273994	chr20:26301661-26301662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552927722	chr20:26301677-26301678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62200106	chr20:26301684-26301685	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:282 , 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	chr20:26298200-26309600	Weak transcription	K562	blood
4	chr20:26300000-26301400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr20:26300400-26302600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr20:26301200-26301400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr20:26301200-26301400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
8	chr20:26301200-26301400	ZNF genes & repeats	Fetal Kidney	kidney
9	chr20:26301200-26301600	ZNF genes & repeats	HUVEC	blood vessel
10	chr20:26301400-26302600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr20:26302400-26302600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr20:26302400-26303000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:26302600-26303000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr20:26302600-26303000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
15	chr20:26302600-26303000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr20:26302600-26303000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
17	chr20:26302600-26303000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr20:26302600-26303000	ZNF genes & repeats	Brain Substantia Nigra	brain
19	chr20:26302600-26303000	ZNF genes & repeats	Colonic Mucosa	Colon
20	chr20:26302800-26303000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
21	chr20:26303000-26304000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr20:26303000-26306800	Weak transcription	Brain Substantia Nigra	brain
23	chr20:26303000-26308800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:26303000-26308800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr20:26303000-26308800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr20:26303000-26308800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr20:26303000-26308800	Weak transcription	Colonic Mucosa	Colon
28	chr20:26304000-26306200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr20:26304000-26308800	Weak transcription	HSMMtube	muscle
30	chr20:26304200-26305800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr20:26304400-26304600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
32	chr20:26304400-26304600	ZNF genes & repeats	NH-A	brain
33	chr20:26304600-26305800	Weak transcription	NH-A	brain
34	chr20:26304800-26305800	ZNF genes & repeats	Dnd41	blood
35	chr20:26305200-26305400	ZNF genes & repeats	HUVEC	blood vessel
36	chr20:26305400-26306800	Weak transcription	HUVEC	blood vessel
37	chr20:26305800-26306000	ZNF genes & repeats	NH-A	brain
38	chr20:26305800-26306800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr20:26306000-26306800	Weak transcription	NH-A	brain
40	chr20:26306600-26307400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr20:26306800-26307000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr20:26306800-26307000	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr20:26306800-26307000	ZNF genes & repeats	HUVEC	blood vessel
44	chr20:26306800-26307000	ZNF genes & repeats	NH-A	brain
45	chr20:26306800-26307200	ZNF genes & repeats	Fetal Brain Male	brain
46	chr20:26306800-26307200	Active TSS	Right Atrium	heart
47	chr20:26307000-26307400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr20:26307000-26308600	Weak transcription	Aorta	Aorta
49	chr20:26307000-26308800	Weak transcription	Brain Substantia Nigra	brain
50	chr20:26307000-26308800	Weak transcription	HUVEC	blood vessel

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