Variant report

Variant	nsv971236
Chromosome Location	chr8:51997446-52000490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548879580	chr8:51997483-51997484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75585759	chr8:51997495-51997496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114096510	chr8:51997516-51997517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548149835	chr8:51997530-51997531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148734801	chr8:51997538-51997539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141533459	chr8:51997603-51997604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543186961	chr8:51997609-51997610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182309256	chr8:51997648-51997649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571808329	chr8:51997683-51997684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79502243	chr8:51997712-51997713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539093146	chr8:51997722-51997723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150866228	chr8:51997731-51997732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569126423	chr8:51997816-51997817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186424211	chr8:51997870-51997871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140204046	chr8:51997884-51997885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77348839	chr8:51997895-51997896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76434265	chr8:51997896-51997897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191358034	chr8:51997922-51997923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73678327	chr8:51997932-51997933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543943854	chr8:51997936-51997937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562520796	chr8:51998015-51998016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113153125	chr8:51998016-51998017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561244939	chr8:51998020-51998021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34952912	chr8:51998041-51998042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560476949	chr8:51998134-51998135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183613440	chr8:51998140-51998141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188204477	chr8:51998179-51998180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531794058	chr8:51998182-51998183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570611861	chr8:51998194-51998195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532672498	chr8:51998197-51998198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527715213	chr8:51998224-51998225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547604962	chr8:51998240-51998241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73678328	chr8:51998242-51998243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114389956	chr8:51998279-51998280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147784323	chr8:51998363-51998364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192159843	chr8:51998422-51998423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183287045	chr8:51998441-51998442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74989353	chr8:51998453-51998454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77296646	chr8:51998455-51998456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199781109	chr8:51998457-51998458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187960049	chr8:51998458-51998459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571000268	chr8:51998463-51998464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533183564	chr8:51998480-51998481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191367306	chr8:51998485-51998486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139435835	chr8:51998504-51998505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544775518	chr8:51998515-51998516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6150581	chr8:51998543-51998544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200864567	chr8:51998558-51998559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201825512	chr8:51998560-51998561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556012706	chr8:51998564-51998565	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
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
Lung cancer	18438408	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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51997000-51997600	Enhancers	NH-A	brain
2	chr8:51997600-52002400	Weak transcription	NH-A	brain

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