Variant report

Variant	esv3329980
Chromosome Location	chr10:56066046-56068044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150600421	chr10:56066066-56066067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191972229	chr10:56066082-56066083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182702360	chr10:56066087-56066088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576607616	chr10:56066089-56066090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114090360	chr10:56066124-56066125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187649251	chr10:56066148-56066149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572056730	chr10:56066189-56066190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540981812	chr10:56066190-56066191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12250646	chr10:56066200-56066201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190034742	chr10:56066207-56066208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138916887	chr10:56066251-56066252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574043030	chr10:56066253-56066254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71299260	chr10:56066265-56066266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376704714	chr10:56066266-56066267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563468824	chr10:56066276-56066277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142717997	chr10:56066325-56066326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548912623	chr10:56066326-56066327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147347412	chr10:56066381-56066382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56878217	chr10:56066399-56066400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372692718	chr10:56066403-56066404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547350467	chr10:56066407-56066408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570549170	chr10:56066426-56066427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539726173	chr10:56066548-56066549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145150159	chr10:56066556-56066557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576554046	chr10:56066566-56066567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57016910	chr10:56066579-56066580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184326434	chr10:56067236-56067237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547515220	chr10:56067281-56067282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142921757	chr10:56067288-56067289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533197053	chr10:56067291-56067292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375289910	chr10:56067296-56067297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570284440	chr10:56067306-56067307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535796287	chr10:56067350-56067351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555894871	chr10:56067407-56067408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7921798	chr10:56067437-56067438	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189312376	chr10:56067438-56067439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534704695	chr10:56067550-56067551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151127490	chr10:56067553-56067554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573564374	chr10:56067562-56067563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116206896	chr10:56067563-56067564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577820937	chr10:56067640-56067641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191706207	chr10:56067644-56067645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184340234	chr10:56067653-56067654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573841845	chr10:56067654-56067655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141404401	chr10:56067681-56067682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559479654	chr10:56067727-56067728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528320162	chr10:56067729-56067730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143873130	chr10:56067735-56067736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4397746	chr10:56067742-56067743	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Developmental delay	21948486	CNVD
Intellectual disability	21948486	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
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56058800-56066400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:56066400-56066600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr10:56067200-56067800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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