Variant report

Variant	nsv585843
Chromosome Location	chr20:26299878-26318279
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: 3085 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:3085 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535788972	chr20:26299882-26299883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200046124	chr20:26299893-26299894	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562721560	chr20:26299915-26299916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202154019	chr20:26299919-26299920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577788892	chr20:26299922-26299923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555786547	chr20:26299923-26299924	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545598263	chr20:26299924-26299925	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572656057	chr20:26299938-26299939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77669875	chr20:26299940-26299941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534721930	chr20:26299956-26299957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558104307	chr20:26299965-26299966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201378753	chr20:26299977-26299978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142109391	chr20:26299981-26299982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199583706	chr20:26300004-26300005	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs146428596	chr20:26300013-26300014	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113000369	chr20:26300028-26300029	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113241763	chr20:26300047-26300048	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs374811091	chr20:26300048-26300049	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201466721	chr20:26300055-26300056	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs376516722	chr20:26300059-26300060	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs199605056	chr20:26300065-26300066	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200668697	chr20:26300066-26300067	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369444404	chr20:26300073-26300074	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs372497752	chr20:26300089-26300090	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs375815946	chr20:26300100-26300101	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs201448696	chr20:26300101-26300102	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs62200080	chr20:26300115-26300116	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112572040	chr20:26300116-26300117	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs79460979	chr20:26300118-26300119	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs78924078	chr20:26300121-26300122	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75663364	chr20:26300123-26300124	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs77197248	chr20:26300135-26300136	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs73609026	chr20:26300136-26300137	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs74386240	chr20:26300144-26300145	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs79033519	chr20:26300145-26300146	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs77340584	chr20:26300146-26300147	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs80222118	chr20:26300147-26300148	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73609027	chr20:26300149-26300150	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200080254	chr20:26300152-26300153	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs77885948	chr20:26300153-26300154	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs201069679	chr20:26300156-26300157	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs79885359	chr20:26300157-26300158	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs77747594	chr20:26300158-26300159	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs74929015	chr20:26300160-26300161	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs62200081	chr20:26300164-26300165	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs74463598	chr20:26300168-26300169	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs78586506	chr20:26300173-26300174	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs374608788	chr20:26300174-26300175	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs62200082	chr20:26300175-26300176	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs75580226	chr20:26300181-26300182	ZNF genes & repeats Weak transcription Active TSS	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:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26293800-26300000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr20:26293800-26300000	Weak transcription	Colon Smooth Muscle	Colon
3	chr20:26293800-26300000	Weak transcription	Fetal Kidney	kidney
4	chr20:26293800-26300000	Weak transcription	Left Ventricle	heart
5	chr20:26293800-26304400	Weak transcription	NH-A	brain
6	chr20:26293800-26309600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:26294000-26300000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr20:26297000-26301200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr20:26298200-26309600	Weak transcription	K562	blood
10	chr20:26299600-26300000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr20:26299800-26300400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr20:26299800-26300400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr20:26300000-26300200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
14	chr20:26300000-26300200	ZNF genes & repeats	Fetal Kidney	kidney
15	chr20:26300000-26300200	ZNF genes & repeats	Left Ventricle	heart
16	chr20:26300000-26300400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr20:26300000-26300400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
18	chr20:26300000-26300400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr20:26300000-26300400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr20:26300000-26300400	ZNF genes & repeats	Liver	Liver
21	chr20:26300000-26300400	ZNF genes & repeats	Brain Hippocampus Middle	brain
22	chr20:26300000-26300400	ZNF genes & repeats	Colon Smooth Muscle	Colon
23	chr20:26300000-26300400	Active TSS	Psoas Muscle	Psoas
24	chr20:26300000-26301400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr20:26300200-26301000	Weak transcription	Fetal Kidney	kidney
26	chr20:26300400-26302600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr20:26301200-26301400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr20:26301200-26301400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
29	chr20:26301200-26301400	ZNF genes & repeats	Fetal Kidney	kidney
30	chr20:26301200-26301600	ZNF genes & repeats	HUVEC	blood vessel
31	chr20:26301400-26302600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr20:26302400-26302600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr20:26302400-26303000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr20:26302600-26303000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr20:26302600-26303000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr20:26302600-26303000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr20:26302600-26303000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
38	chr20:26302600-26303000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr20:26302600-26303000	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr20:26302600-26303000	ZNF genes & repeats	Colonic Mucosa	Colon
41	chr20:26302800-26303000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
42	chr20:26303000-26304000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr20:26303000-26306800	Weak transcription	Brain Substantia Nigra	brain
44	chr20:26303000-26308800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:26303000-26308800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr20:26303000-26308800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr20:26303000-26308800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr20:26303000-26308800	Weak transcription	Colonic Mucosa	Colon
49	chr20:26304000-26306200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr20:26304000-26308800	Weak transcription	HSMMtube	muscle

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