Variant report

Variant	nsv981877
Chromosome Location	chr8:62332544-62334280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555832860	chr8:62332544-62332545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1908076	chr8:62332545-62332546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567938057	chr8:62332555-62332556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149706024	chr8:62332564-62332565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565034573	chr8:62332590-62332591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556498856	chr8:62332602-62332603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577731527	chr8:62332608-62332609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187820202	chr8:62332609-62332610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192893990	chr8:62332617-62332618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557535034	chr8:62332681-62332682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530939443	chr8:62332734-62332735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572748864	chr8:62332756-62332757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540415997	chr8:62332759-62332760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561869979	chr8:62332761-62332762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145508672	chr8:62332810-62332811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7003083	chr8:62332814-62332815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369259761	chr8:62332815-62332816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148419113	chr8:62332881-62332882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7003252	chr8:62332929-62332930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376264365	chr8:62332954-62332955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566566716	chr8:62332955-62332956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183558288	chr8:62333021-62333022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7003682	chr8:62333027-62333028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567892953	chr8:62333044-62333045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538502419	chr8:62333048-62333049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7003399	chr8:62333068-62333069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs571261019	chr8:62333085-62333086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7003802	chr8:62333093-62333094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553889717	chr8:62333109-62333110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572193781	chr8:62333116-62333117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145154645	chr8:62333118-62333119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7003586	chr8:62333147-62333148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560716147	chr8:62333150-62333151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188598569	chr8:62333176-62333177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544451967	chr8:62333179-62333180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368396874	chr8:62333182-62333183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7003729	chr8:62333266-62333267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7003851	chr8:62333285-62333286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545010993	chr8:62333303-62333304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2007093	chr8:62333304-62333305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184799769	chr8:62333353-62333354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6986077	chr8:62333362-62333363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs567807849	chr8:62333437-62333438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs36074920	chr8:62333441-62333442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531915614	chr8:62333449-62333450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10216428	chr8:62333485-62333486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188306703	chr8:62333512-62333513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200852079	chr8:62333523-62333524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368369219	chr8:62333530-62333531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372073380	chr8:62333537-62333538	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
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
Bipolar disorder	19114987	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62310400-62368200	Weak transcription	Fetal Brain Female	brain
2	chr8:62331600-62333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:62333800-62334200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:62334000-62334600	Enhancers	GM12878-XiMat	blood

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