Variant report

Variant	esv3324154
Chromosome Location	chr10:58900346-58902294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551642886	chr10:58900354-58900355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560386581	chr10:58900355-58900356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114686517	chr10:58900373-58900374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138511781	chr10:58900378-58900379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117454067	chr10:58900426-58900427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538262282	chr10:58900453-58900454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549887293	chr10:58900485-58900486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202081793	chr10:58900500-58900501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370977748	chr10:58900507-58900508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148923017	chr10:58900554-58900555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556997394	chr10:58900566-58900567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538744442	chr10:58900581-58900582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553989672	chr10:58900586-58900587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146139596	chr10:58900610-58900611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140041590	chr10:58900611-58900612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536565799	chr10:58900640-58900641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554858330	chr10:58900645-58900646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377038532	chr10:58900657-58900658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116502075	chr10:58900689-58900690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372865004	chr10:58900722-58900723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113472912	chr10:58900775-58900776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11005660	chr10:58900783-58900784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562334698	chr10:58900784-58900785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572929964	chr10:58900807-58900808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138661394	chr10:58900812-58900813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114923193	chr10:58900883-58900884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143859004	chr10:58900952-58900953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527497339	chr10:58900965-58900966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542814589	chr10:58901087-58901088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561261855	chr10:58901098-58901099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531488857	chr10:58901112-58901113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3105322	chr10:58901114-58901115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7900783	chr10:58901116-58901117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36042895	chr10:58901118-58901119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187411267	chr10:58901120-58901121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190687590	chr10:58901145-58901146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183121239	chr10:58901162-58901163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565803262	chr10:58901172-58901173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536471255	chr10:58901177-58901178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111840083	chr10:58901183-58901184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554721669	chr10:58901199-58901200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528303409	chr10:58901200-58901201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570106190	chr10:58901208-58901209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570362628	chr10:58901238-58901239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530298048	chr10:58901280-58901281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397847337	chr10:58901281-58901282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542140973	chr10:58901288-58901289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115564995	chr10:58901321-58901322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188004037	chr10:58901322-58901323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78331519	chr10:58901347-58901348	Weak transcription	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58899800-58902000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:58902000-58902800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:58902000-58903600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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