Variant report

Variant	nsv438062
Chromosome Location	chr8:65115877-65117805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3912470	chr8:65115877-65115878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141176346	chr8:65115920-65115921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150901800	chr8:65115968-65115969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs936793	chr8:65116000-65116001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556543400	chr8:65116042-65116043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs936794	chr8:65116073-65116074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190950507	chr8:65116114-65116115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183400836	chr8:65116115-65116116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369859816	chr8:65116225-65116226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531790725	chr8:65116226-65116227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3896750	chr8:65116231-65116232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187294387	chr8:65116265-65116266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553186070	chr8:65116274-65116275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564680503	chr8:65116312-65116313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532231576	chr8:65116328-65116329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547106902	chr8:65116379-65116380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369222609	chr8:65116389-65116390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372085026	chr8:65116395-65116396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565656519	chr8:65116425-65116426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539724150	chr8:65116441-65116442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1485491	chr8:65116458-65116459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535660452	chr8:65116473-65116474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139388453	chr8:65116491-65116492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75568616	chr8:65116496-65116497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1485492	chr8:65116547-65116548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116285144	chr8:65116565-65116566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537281064	chr8:65116597-65116598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190684616	chr8:65116620-65116621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534750881	chr8:65116623-65116624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557738387	chr8:65116674-65116675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150061885	chr8:65116675-65116676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370024665	chr8:65116761-65116762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539106027	chr8:65116802-65116803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553939918	chr8:65116830-65116831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183239188	chr8:65116879-65116880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5891945	chr8:65116894-65116895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542608107	chr8:65116937-65116938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558476647	chr8:65116954-65116955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554852447	chr8:65116976-65116977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576319228	chr8:65116977-65116978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188021820	chr8:65116992-65116993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565116111	chr8:65116993-65116994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377555795	chr8:65117048-65117049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577720409	chr8:65117061-65117062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35240798	chr8:65117082-65117083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532143754	chr8:65117088-65117089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541137931	chr8:65117097-65117098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369563457	chr8:65117115-65117116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546484833	chr8:65117140-65117141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559157784	chr8:65117150-65117151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65107400-65116800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:65116800-65117000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:65116800-65117400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:65117000-65119400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:65117400-65118400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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