Variant report

Variant	esv2759725
Chromosome Location	chr10:1852791-1923557
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	chr10:1910694..1913328-chr10:1934835..1936567,2	MCF-7	breast:
4	chr10:1892660..1894538-chr10:1897061..1899093,2	K562	blood:
5	chr10:1855465..1858020-chr10:1858610..1861239,2	K562	blood:
6	chr10:1886106..1888077-chr10:1890790..1892501,2	K562	blood:
7	chr10:1855465..1858020-chr10:1858610..1861239,2	K562	blood:

Extended variants
information (count: 1782 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1782 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17157011	chr10:1852791-1852792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368031762	chr10:1852793-1852794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190460244	chr10:1852834-1852835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542298476	chr10:1852843-1852844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116675413	chr10:1852933-1852934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528403144	chr10:1852947-1852948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562532094	chr10:1852950-1852951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565091535	chr10:1852964-1852965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149133561	chr10:1852987-1852988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568975827	chr10:1853006-1853007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371999221	chr10:1853033-1853034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551217627	chr10:1853040-1853041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570503460	chr10:1853105-1853106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570028116	chr10:1853206-1853207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529280914	chr10:1853233-1853234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539115245	chr10:1853259-1853260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17157014	chr10:1853268-1853269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533125639	chr10:1853270-1853271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17157015	chr10:1853406-1853407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535019691	chr10:1853501-1853502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182128021	chr10:1853537-1853538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186581626	chr10:1853555-1853556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201862036	chr10:1853561-1853562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536706093	chr10:1853570-1853571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368629527	chr10:1853615-1853616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556627298	chr10:1853641-1853642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573699729	chr10:1853717-1853718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536222377	chr10:1853757-1853758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555238497	chr10:1853767-1853768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112979048	chr10:1853782-1853783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552727418	chr10:1853803-1853804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573058918	chr10:1853813-1853814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544997263	chr10:1853872-1853873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565027093	chr10:1853921-1853922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575520351	chr10:1853978-1853979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73594689	chr10:1853991-1853992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147379118	chr10:1867024-1867025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139144606	chr10:1867034-1867035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544774733	chr10:1867045-1867046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183939478	chr10:1867070-1867071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74363508	chr10:1867072-1867073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149520863	chr10:1867182-1867183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7091914	chr10:1867189-1867190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561648537	chr10:1867312-1867313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532109415	chr10:1867351-1867352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545522727	chr10:1867377-1867378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562763397	chr10:1867394-1867395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115341841	chr10:1867396-1867397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144126264	chr10:1867406-1867407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567929537	chr10:1867431-1867432	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1808600-1853400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:1847600-1853600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:1850800-1853000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr10:1853000-1854000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr10:1853400-1854000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr10:1853400-1854000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr10:1853600-1854000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr10:1853600-1854000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr10:1853600-1854000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr10:1853600-1854000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr10:1853600-1854000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:1853800-1854000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:1867000-1867800	Enhancers	Primary B cells from peripheral blood	blood
14	chr10:1877000-1877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:1878800-1879000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:1883600-1884000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:1884000-1884200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:1884000-1884400	Enhancers	Pancreas	Pancrea
19	chr10:1886600-1888000	Enhancers	Dnd41	blood
20	chr10:1887600-1887800	Enhancers	Pancreas	Pancrea
21	chr10:1887800-1890000	Enhancers	Fetal Brain Male	brain
22	chr10:1889600-1890000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:1890000-1895200	Weak transcription	Fetal Brain Male	brain
24	chr10:1890000-1895400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:1893400-1894000	Enhancers	Hela-S3	cervix
26	chr10:1895200-1895800	Enhancers	Fetal Brain Male	brain
27	chr10:1895400-1895600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:1895600-1912800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:1895800-1897800	Weak transcription	Fetal Brain Male	brain
30	chr10:1897200-1899400	Enhancers	Brain Germinal Matrix	brain
31	chr10:1897800-1898000	Enhancers	Fetal Brain Male	brain
32	chr10:1898000-1898400	Weak transcription	Fetal Brain Male	brain
33	chr10:1898400-1898800	Enhancers	Fetal Brain Male	brain
34	chr10:1899400-1900000	Weak transcription	Brain Germinal Matrix	brain
35	chr10:1899600-1900000	Enhancers	Hela-S3	cervix
36	chr10:1900000-1900200	Enhancers	Brain Germinal Matrix	brain
37	chr10:1900200-1900600	Enhancers	Hela-S3	cervix
38	chr10:1900400-1901000	Enhancers	Gastric	stomach
39	chr10:1900400-1901200	Enhancers	Dnd41	blood
40	chr10:1913200-1913400	Enhancers	Fetal Intestine Large	intestine
41	chr10:1913800-1914000	Enhancers	Fetal Intestine Small	intestine
42	chr10:1915400-1917000	Enhancers	Fetal Intestine Large	intestine
43	chr10:1915800-1916600	Enhancers	Fetal Intestine Small	intestine
44	chr10:1916000-1917400	Enhancers	GM12878-XiMat	blood
45	chr10:1921400-1921800	Enhancers	Hela-S3	cervix
46	chr10:1921800-1925000	Weak transcription	Hela-S3	cervix
47	chr10:1922800-1923200	Enhancers	Dnd41	blood
48	chr10:1923400-1926200	Enhancers	Fetal Intestine Large	intestine

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