Variant report

Variant	nsv972188
Chromosome Location	chr8:65162102-65164704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574964230	chr8:65162121-65162122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541960399	chr8:65162225-65162226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191602727	chr8:65162228-65162229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555457391	chr8:65162283-65162284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530465335	chr8:65162308-65162309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145596124	chr8:65162319-65162320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563709513	chr8:65162355-65162356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58479684	chr8:65162380-65162381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147301113	chr8:65162451-65162452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561762464	chr8:65162518-65162519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72652659	chr8:65162521-65162522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570760625	chr8:65162566-65162567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548431327	chr8:65162585-65162586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372740592	chr8:65162601-65162602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73246251	chr8:65162617-65162618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs111885729	chr8:65162630-65162631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140764876	chr8:65162644-65162645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552627512	chr8:65162648-65162649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570826865	chr8:65162650-65162651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535377254	chr8:65162737-65162738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183209630	chr8:65162778-65162779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73246253	chr8:65162835-65162836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs36002817	chr8:65162860-65162861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374952853	chr8:65162876-65162877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536038518	chr8:65162889-65162890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557233331	chr8:65162941-65162942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35118101	chr8:65162977-65162978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533104609	chr8:65163002-65163003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575000484	chr8:65163005-65163006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528737126	chr8:65163019-65163020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144742068	chr8:65163028-65163029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112923669	chr8:65163080-65163081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187924456	chr8:65163088-65163089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572481064	chr8:65163101-65163102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6983018	chr8:65163128-65163129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs373357688	chr8:65163134-65163135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192005707	chr8:65163136-65163137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185246091	chr8:65163193-65163194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372924374	chr8:65163194-65163195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531101904	chr8:65163210-65163211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376540257	chr8:65163219-65163220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562642834	chr8:65163240-65163241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74596922	chr8:65163301-65163302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201412633	chr8:65163305-65163306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77182660	chr8:65163399-65163400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190384832	chr8:65163435-65163436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535013078	chr8:65163473-65163474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs207469295	chr8:65163476-65163477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148937844	chr8:65163534-65163535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192688291	chr8:65163572-65163573	Weak transcription	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65159200-65168000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:65163000-65166200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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