Variant report

Variant	nsv982099
Chromosome Location	chr8:60255146-60258539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368619622	chr8:60255151-60255152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540338281	chr8:60255165-60255166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559788468	chr8:60255200-60255201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189627274	chr8:60255202-60255203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73262037	chr8:60255228-60255229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs151041225	chr8:60255270-60255271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565278369	chr8:60255301-60255302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140976608	chr8:60255383-60255384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181620684	chr8:60255406-60255407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567859044	chr8:60255408-60255409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186869587	chr8:60255424-60255425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77217710	chr8:60255443-60255444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566952338	chr8:60255457-60255458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192135780	chr8:60255488-60255489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572586756	chr8:60255496-60255497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558986407	chr8:60255530-60255531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575499980	chr8:60255559-60255560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538150741	chr8:60255698-60255699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182022077	chr8:60255711-60255712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114781930	chr8:60255755-60255756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540016890	chr8:60255835-60255836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201342090	chr8:60255840-60255841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567803898	chr8:60255889-60255890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34478189	chr8:60255890-60255891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559849562	chr8:60255894-60255895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544643330	chr8:60255908-60255909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576520985	chr8:60255930-60255931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545440421	chr8:60255945-60255946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562149812	chr8:60255958-60255959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531169369	chr8:60256009-60256010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372015290	chr8:60256030-60256031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551274445	chr8:60256068-60256069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561396928	chr8:60256074-60256075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530349411	chr8:60256076-60256077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547203756	chr8:60256082-60256083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6994749	chr8:60256110-60256111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150227262	chr8:60256139-60256140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539118848	chr8:60256191-60256192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186374504	chr8:60256210-60256211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552662121	chr8:60256229-60256230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569249166	chr8:60256230-60256231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537822324	chr8:60256254-60256255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200316991	chr8:60256372-60256373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540078471	chr8:60256373-60256374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5014398	chr8:60256388-60256389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs55908765	chr8:60256394-60256395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568248828	chr8:60256409-60256410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533777516	chr8:60256464-60256465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553548407	chr8:60256510-60256511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144994438	chr8:60256534-60256535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Salivary gland tumor	18059337	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60253200-60256600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:60256600-60256800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:60258200-60258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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