Variant report

Variant	nsv967588
Chromosome Location	chr8:50650796-50653401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563537915	chr8:50650823-50650824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572989222	chr8:50650839-50650840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542738929	chr8:50650843-50650844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561365117	chr8:50650847-50650848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186344112	chr8:50650864-50650865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114093658	chr8:50650867-50650868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538108815	chr8:50650877-50650878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565981891	chr8:50650878-50650879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533259546	chr8:50650885-50650886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551640688	chr8:50650937-50650938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184595574	chr8:50650938-50650939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117632930	chr8:50650965-50650966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369395510	chr8:50651015-50651016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555192602	chr8:50651048-50651049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567319715	chr8:50651076-50651077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534330221	chr8:50651137-50651138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569172401	chr8:50651141-50651142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552507210	chr8:50651152-50651153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577965990	chr8:50651154-50651155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538937952	chr8:50651196-50651197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189430281	chr8:50651197-50651198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575729601	chr8:50651204-50651205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543180752	chr8:50651219-50651220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561243138	chr8:50651314-50651315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181473149	chr8:50651315-50651316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540675803	chr8:50651320-50651321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76583288	chr8:50651360-50651361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149888207	chr8:50651436-50651437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550011650	chr8:50651454-50651455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563546523	chr8:50651459-50651460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184984394	chr8:50651476-50651477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189107917	chr8:50651526-50651527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78969650	chr8:50651531-50651532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369060388	chr8:50651575-50651576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181720711	chr8:50651606-50651607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546230876	chr8:50651616-50651617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570896116	chr8:50651617-50651618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79942455	chr8:50651686-50651687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79587164	chr8:50651709-50651710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575863495	chr8:50651749-50651750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536456642	chr8:50651756-50651757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186421739	chr8:50651759-50651760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145930498	chr8:50651786-50651787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552626391	chr8:50651812-50651813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139878492	chr8:50651861-50651862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537708328	chr8:50651951-50651952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199867673	chr8:50651952-50651953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191136921	chr8:50651956-50651957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577332629	chr8:50652016-50652017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544583206	chr8:50652040-50652041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50646200-50651600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:50651600-50651800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:50651800-50654200	Weak transcription	H1 Cell Line	embryonic stem cell

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