Variant report

Variant	esv3391632
Chromosome Location	chr10:58808995-58846212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59946469	chr10:58809008-58809009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144750033	chr10:58809037-58809038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4424598	chr10:58809061-58809062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550094485	chr10:58809195-58809196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565251918	chr10:58809208-58809209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367766449	chr10:58809214-58809215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201983834	chr10:58809215-58809216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374067948	chr10:58809216-58809217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192500459	chr10:58809401-58809402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145772131	chr10:58809444-58809445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566335348	chr10:58809492-58809493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533936308	chr10:58809495-58809496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549078902	chr10:58809510-58809511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576186567	chr10:58809528-58809529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567505030	chr10:58809604-58809605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10825976	chr10:58809636-58809637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113089021	chr10:58809638-58809639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556369527	chr10:58809668-58809669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577869413	chr10:58809735-58809736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183532328	chr10:58809748-58809749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116248600	chr10:58809770-58809771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72797991	chr10:58809787-58809788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148919845	chr10:58809788-58809789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531390450	chr10:58810211-58810212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184038780	chr10:58810224-58810225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571342364	chr10:58810256-58810257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538968874	chr10:58810289-58810290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76597569	chr10:58810302-58810303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535526010	chr10:58810306-58810307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10825977	chr10:58810350-58810351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559433276	chr10:58813209-58813210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs569384488	chr10:58813219-58813220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs35483687	chr10:58813264-58813265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs533589056	chr10:58813296-58813297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs192895124	chr10:58813322-58813323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs73277673	chr10:58813370-58813371	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551348515	chr10:58813380-58813381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs139307108	chr10:58813385-58813386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs61848411	chr10:58814623-58814624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550560682	chr10:58814632-58814633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568751349	chr10:58814648-58814649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533094810	chr10:58814652-58814653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139964771	chr10:58814673-58814674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566538424	chr10:58814684-58814685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562023778	chr10:58814686-58814687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555552969	chr10:58814690-58814691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35453593	chr10:58814704-58814705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370510308	chr10:58814714-58814715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553276999	chr10:58814718-58814719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181230909	chr10:58814724-58814725	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58808400-58809800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:58810200-58810400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:58813200-58813400	ZNF genes & repeats	Pancreas	Pancrea
4	chr10:58814600-58815200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr10:58827800-58828200	Enhancers	HUES48 Cell Line	embryonic stem cell

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