Variant report

Variant	nsv967599
Chromosome Location	chr8:63768089-63769258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183466157	chr8:63768147-63768148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376515587	chr8:63768156-63768157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187312533	chr8:63768164-63768165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537292286	chr8:63768170-63768171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557505785	chr8:63768184-63768185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554760162	chr8:63768223-63768224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576169476	chr8:63768231-63768232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73258775	chr8:63768257-63768258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558627874	chr8:63768264-63768265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372650177	chr8:63768276-63768277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192158869	chr8:63768277-63768278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182717325	chr8:63768292-63768293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73258778	chr8:63768362-63768363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149287641	chr8:63768372-63768373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62510782	chr8:63768397-63768398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs186717769	chr8:63768398-63768399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550445560	chr8:63768413-63768414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573277361	chr8:63768425-63768426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565465135	chr8:63768462-63768463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532128566	chr8:63768463-63768464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547380471	chr8:63768477-63768478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565698153	chr8:63768478-63768479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76728266	chr8:63768483-63768484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548348505	chr8:63768574-63768575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569831109	chr8:63768576-63768577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7823443	chr8:63768595-63768596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558800128	chr8:63768629-63768630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565425283	chr8:63768661-63768662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534625639	chr8:63768672-63768673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576216074	chr8:63768700-63768701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs899680	chr8:63768731-63768732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs113793836	chr8:63768745-63768746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542701017	chr8:63768764-63768765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561271453	chr8:63768861-63768862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368111376	chr8:63768868-63768869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144550944	chr8:63768894-63768895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72655003	chr8:63768896-63768897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs79695714	chr8:63768920-63768921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143543505	chr8:63768931-63768932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77143118	chr8:63769003-63769004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147175726	chr8:63769018-63769019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191946090	chr8:63769025-63769026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548248580	chr8:63769041-63769042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78409998	chr8:63769048-63769049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182652352	chr8:63769129-63769130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552058734	chr8:63769130-63769131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570316059	chr8:63769140-63769141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140276637	chr8:63769173-63769174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63759000-63776400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63768800-63769600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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