Variant report

Variant	esv2754330
Chromosome Location	chr10:58477451-58511952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143921898	chr10:58482612-58482613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114844052	chr10:58482623-58482624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140420248	chr10:58482673-58482674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16909265	chr10:58482756-58482757	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs144174087	chr10:58482805-58482806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147765942	chr10:58482830-58482831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564071874	chr10:58482851-58482852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542181800	chr10:58482853-58482854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117127199	chr10:58482860-58482861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546639619	chr10:58482981-58482982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568455083	chr10:58482984-58482985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11005460	chr10:58483043-58483044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11005461	chr10:58483093-58483094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141162459	chr10:58483105-58483106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180764622	chr10:58483123-58483124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546488469	chr10:58483131-58483132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375238912	chr10:58483132-58483133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540054717	chr10:58483196-58483197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572755425	chr10:58505008-58505009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563338105	chr10:58505015-58505016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139562921	chr10:58505033-58505034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs60880697	chr10:58505095-58505096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7924028	chr10:58505135-58505136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542621156	chr10:58505144-58505145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535052396	chr10:58505216-58505217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78115038	chr10:58505238-58505239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183727569	chr10:58505253-58505254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376819402	chr10:58505289-58505290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11005487	chr10:58505292-58505293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541771619	chr10:58505301-58505302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578212285	chr10:58505420-58505421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376548273	chr10:58505422-58505423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542162210	chr10:58505423-58505424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557089946	chr10:58505439-58505440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575660812	chr10:58505469-58505470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547587860	chr10:58505550-58505551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35724421	chr10:58505554-58505555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369958957	chr10:58505555-58505556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546343625	chr10:58505561-58505562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78112316	chr10:58505565-58505566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12572929	chr10:58505590-58505591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10825869	chr10:58505601-58505602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540918451	chr10:58505655-58505656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562450755	chr10:58505700-58505701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529562619	chr10:58505713-58505714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548127592	chr10:58505716-58505717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569564462	chr10:58505738-58505739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530491504	chr10:58505742-58505743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12265015	chr10:58505761-58505762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186105125	chr10:58511617-58511618	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58482600-58483200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr10:58482800-58483200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:58505000-58505600	Enhancers	HMEC	breast
4	chr10:58505400-58505800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr10:58511600-58512400	Enhancers	Brain Germinal Matrix	brain

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