Variant report

Variant	nsv1045503
Chromosome Location	chr10:1891083-1902688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1886106..1888077-chr10:1890790..1892501,2	K562	blood:
2	chr10:1892660..1894538-chr10:1897061..1899093,2	K562	blood:
3	chr10:1892660..1894538-chr10:1897061..1899093,2	K562	blood:

Extended variants
information (count: 589 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6560777	chr10:1891083-1891084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188363897	chr10:1891128-1891129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539458681	chr10:1891140-1891141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6560778	chr10:1891141-1891142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140653699	chr10:1891160-1891161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192852386	chr10:1891173-1891174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6560779	chr10:1891174-1891175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs145768490	chr10:1891194-1891195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540759880	chr10:1891240-1891241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368081622	chr10:1891252-1891253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557843615	chr10:1891257-1891258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527349221	chr10:1891286-1891287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577518002	chr10:1891314-1891315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543465311	chr10:1891352-1891353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563540680	chr10:1891373-1891374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138429028	chr10:1891389-1891390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546702363	chr10:1891417-1891418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542972063	chr10:1891447-1891448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372130056	chr10:1891477-1891478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185359543	chr10:1891500-1891501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568614392	chr10:1891505-1891506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528331185	chr10:1891513-1891514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547536370	chr10:1891528-1891529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565931217	chr10:1891611-1891612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535593227	chr10:1891673-1891674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150945558	chr10:1891674-1891675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199608025	chr10:1891676-1891677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71297907	chr10:1891677-1891678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533121415	chr10:1891690-1891691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60811892	chr10:1891701-1891702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs72768868	chr10:1891722-1891723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11250827	chr10:1891743-1891744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4880538	chr10:1891746-1891747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143019285	chr10:1891771-1891772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192534885	chr10:1891793-1891794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4880539	chr10:1891815-1891816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538040629	chr10:1891885-1891886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561316133	chr10:1891890-1891891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577829266	chr10:1892027-1892028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534925486	chr10:1892033-1892034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543578603	chr10:1892069-1892070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185105872	chr10:1892088-1892089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573725913	chr10:1892153-1892154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542937350	chr10:1892165-1892166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188256409	chr10:1892189-1892190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150693744	chr10:1892212-1892213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545202986	chr10:1892290-1892291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181030982	chr10:1892292-1892293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117549136	chr10:1892335-1892336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549906774	chr10:1892344-1892345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1890000-1895200	Weak transcription	Fetal Brain Male	brain
2	chr10:1890000-1895400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:1893400-1894000	Enhancers	Hela-S3	cervix
4	chr10:1895200-1895800	Enhancers	Fetal Brain Male	brain
5	chr10:1895400-1895600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:1895600-1912800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:1895800-1897800	Weak transcription	Fetal Brain Male	brain
8	chr10:1897200-1899400	Enhancers	Brain Germinal Matrix	brain
9	chr10:1897800-1898000	Enhancers	Fetal Brain Male	brain
10	chr10:1898000-1898400	Weak transcription	Fetal Brain Male	brain
11	chr10:1898400-1898800	Enhancers	Fetal Brain Male	brain
12	chr10:1899400-1900000	Weak transcription	Brain Germinal Matrix	brain
13	chr10:1899600-1900000	Enhancers	Hela-S3	cervix
14	chr10:1900000-1900200	Enhancers	Brain Germinal Matrix	brain
15	chr10:1900200-1900600	Enhancers	Hela-S3	cervix
16	chr10:1900400-1901000	Enhancers	Gastric	stomach
17	chr10:1900400-1901200	Enhancers	Dnd41	blood

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