Variant report

Variant	nsv585850
Chromosome Location	chr20:26300555-26318279
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: 2984 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:2984 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142975989	chr20:26300557-26300558	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs139171259	chr20:26300558-26300559	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs138018102	chr20:26300561-26300562	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562000922	chr20:26300589-26300590	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs199768540	chr20:26300590-26300591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs112354260	chr20:26300605-26300606	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200501583	chr20:26300614-26300615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs60370968	chr20:26300618-26300619	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs529452282	chr20:26300628-26300629	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs142118241	chr20:26300641-26300642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201753229	chr20:26300642-26300643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs62200083	chr20:26300648-26300649	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs529903345	chr20:26300649-26300650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs148942552	chr20:26300651-26300652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112899624	chr20:26300657-26300658	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs549519510	chr20:26300659-26300660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs529184533	chr20:26300671-26300672	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550821122	chr20:26300698-26300699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs569092701	chr20:26300704-26300705	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539584242	chr20:26300707-26300708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs566263144	chr20:26300710-26300711	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201052170	chr20:26300712-26300713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs199860904	chr20:26300714-26300715	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535304098	chr20:26300722-26300723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs77533588	chr20:26300728-26300729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs36140785	chr20:26300730-26300731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76597837	chr20:26300731-26300732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368069141	chr20:26300748-26300749	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557899077	chr20:26300750-26300751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs199503542	chr20:26300766-26300767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs55739827	chr20:26300774-26300775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78508642	chr20:26300780-26300781	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs145533591	chr20:26300787-26300788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs149269209	chr20:26300788-26300789	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs73609035	chr20:26300792-26300793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs571659561	chr20:26300794-26300795	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs140993334	chr20:26300795-26300796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368670062	chr20:26300799-26300800	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs537588766	chr20:26300828-26300829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs551593574	chr20:26300854-26300855	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs199719025	chr20:26300861-26300862	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200617354	chr20:26300864-26300865	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs374560599	chr20:26300895-26300896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs368098462	chr20:26300898-26300899	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs73609036	chr20:26300917-26300918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs74886783	chr20:26300920-26300921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs73609037	chr20:26300922-26300923	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs542474373	chr20:26300932-26300933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73609038	chr20:26300934-26300935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs553104551	chr20:26300980-26300981	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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