Variant report

Variant	nsv585829
Chromosome Location	chr20:26291669-26318279
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: 4049 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:4049 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6051295	chr20:26291669-26291670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113576541	chr20:26291690-26291691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202160828	chr20:26291701-26291702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200393216	chr20:26291704-26291705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201219639	chr20:26291733-26291734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201737505	chr20:26291798-26291799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189737137	chr20:26291807-26291808	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183504711	chr20:26291817-26291818	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565039322	chr20:26291818-26291819	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530862301	chr20:26291874-26291875	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200198593	chr20:26291895-26291896	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550584088	chr20:26291898-26291899	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560979703	chr20:26291899-26291900	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201741366	chr20:26291900-26291901	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112987964	chr20:26291903-26291904	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200904752	chr20:26291925-26291926	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201432983	chr20:26291966-26291967	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375730185	chr20:26291981-26291982	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532526856	chr20:26291997-26291998	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546139735	chr20:26292005-26292006	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187836180	chr20:26292007-26292008	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192986126	chr20:26292010-26292011	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551578124	chr20:26292013-26292014	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571728327	chr20:26292038-26292039	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185279975	chr20:26292059-26292060	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs118072189	chr20:26292074-26292075	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79747493	chr20:26292084-26292085	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566977743	chr20:26292090-26292091	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113318030	chr20:26292096-26292097	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74733064	chr20:26292103-26292104	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560991590	chr20:26292128-26292129	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139515027	chr20:26292130-26292131	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74831955	chr20:26292141-26292142	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74196514	chr20:26292142-26292143	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112082182	chr20:26292151-26292152	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574027841	chr20:26292160-26292161	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536651521	chr20:26292166-26292167	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553362804	chr20:26292167-26292168	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113874472	chr20:26292186-26292187	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184399498	chr20:26292187-26292188	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111693098	chr20:26292196-26292197	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112255669	chr20:26292207-26292208	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573391204	chr20:26292225-26292226	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545491031	chr20:26292226-26292227	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76010731	chr20:26292238-26292239	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76925584	chr20:26292239-26292240	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79131988	chr20:26292242-26292243	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62196885	chr20:26292266-26292267	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199940001	chr20:26292267-26292268	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62196886	chr20:26292278-26292279	ZNF genes & repeats Enhancers 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:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26286200-26293200	Weak transcription	K562	blood
2	chr20:26288200-26293200	Weak transcription	NH-A	brain
3	chr20:26289800-26293200	Weak transcription	HUVEC	blood vessel
4	chr20:26290000-26292000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr20:26290200-26291800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr20:26290200-26293600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr20:26290400-26293200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr20:26290600-26292000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr20:26290600-26292000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr20:26290600-26292000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr20:26290600-26292000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr20:26290600-26293000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr20:26290600-26293200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr20:26290800-26291800	Weak transcription	Dnd41	blood
15	chr20:26291800-26292200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr20:26291800-26293400	Enhancers	Dnd41	blood
17	chr20:26292000-26292200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr20:26292000-26292600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
19	chr20:26292000-26293000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr20:26292000-26293200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr20:26292000-26293800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
22	chr20:26292200-26292600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr20:26292200-26293800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr20:26292400-26293800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
25	chr20:26292600-26293000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr20:26292600-26293200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr20:26293000-26293200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr20:26293000-26293400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr20:26293000-26293400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr20:26293000-26293800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr20:26293000-26293800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr20:26293000-26293800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr20:26293000-26293800	ZNF genes & repeats	Left Ventricle	heart
34	chr20:26293200-26293400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
35	chr20:26293200-26293400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr20:26293200-26293400	Weak transcription	Fetal Kidney	kidney
37	chr20:26293200-26293600	Active TSS	HSMMtube	muscle
38	chr20:26293200-26293800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr20:26293200-26293800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr20:26293200-26293800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
41	chr20:26293200-26293800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr20:26293200-26293800	ZNF genes & repeats	Brain Angular Gyrus	brain
43	chr20:26293200-26293800	ZNF genes & repeats	Hela-S3	cervix
44	chr20:26293200-26293800	ZNF genes & repeats	HUVEC	blood vessel
45	chr20:26293200-26293800	ZNF genes & repeats	K562	blood
46	chr20:26293200-26293800	ZNF genes & repeats	NH-A	brain
47	chr20:26293200-26294000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
48	chr20:26293200-26294000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr20:26293200-26294000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
50	chr20:26293400-26293600	Enhancers	Primary T helper cells PMA-I stimulated	--

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