Variant report

Variant	esv2764135
Chromosome Location	chr10:58511444-58536063
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	chr10:58520687..58523515-chr10:58525184..58528081,2	MCF-7	breast:
2	chr10:58520687..58523515-chr10:58525184..58528081,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186105125	chr10:58511617-58511618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2025564	chr10:58511654-58511655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs117279062	chr10:58511832-58511833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115449221	chr10:58511859-58511860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575774885	chr10:58511880-58511881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539963243	chr10:58511892-58511893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377661109	chr10:58511907-58511908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7915402	chr10:58511952-58511953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573390202	chr10:58512029-58512030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540909005	chr10:58512030-58512031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564534649	chr10:58512062-58512063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141836484	chr10:58512132-58512133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374004402	chr10:58512151-58512152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554812309	chr10:58512156-58512157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147123887	chr10:58512184-58512185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541383969	chr10:58512193-58512194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188224352	chr10:58512196-58512197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527319034	chr10:58512197-58512198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530493004	chr10:58512222-58512223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180766197	chr10:58512292-58512293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116235027	chr10:58512330-58512331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1914560	chr10:58512347-58512348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546777135	chr10:58512378-58512379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568226463	chr10:58512389-58512390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563565467	chr10:58530417-58530418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530850573	chr10:58530482-58530483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs546198435	chr10:58530486-58530487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs564507782	chr10:58530493-58530494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs73284956	chr10:58530526-58530527	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571033131	chr10:58530548-58530549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547023906	chr10:58530570-58530571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs568471464	chr10:58530581-58530582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs529454404	chr10:58530582-58530583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs192976702	chr10:58530598-58530599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs79649088	chr10:58530611-58530612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs539776778	chr10:58530633-58530634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs185249993	chr10:58530681-58530682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs558117975	chr10:58530739-58530740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs570161485	chr10:58530778-58530779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs74137786	chr10:58530792-58530793	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552995762	chr10:58530797-58530798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs553584454	chr10:58530807-58530808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574465827	chr10:58530831-58530832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541980363	chr10:58530864-58530865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs557220639	chr10:58530885-58530886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs189509291	chr10:58530887-58530888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546160014	chr10:58530898-58530899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs74757215	chr10:58530900-58530901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs528452688	chr10:58530944-58530945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540284256	chr10:58530959-58530960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58511600-58512400	Enhancers	Brain Germinal Matrix	brain
2	chr10:58530400-58531200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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