Variant report

Variant	esv3388268
Chromosome Location	chr8:63327248-63328446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547347248	chr8:63327272-63327273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188314078	chr8:63327307-63327308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536968246	chr8:63327342-63327343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145735654	chr8:63327385-63327386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193281741	chr8:63327419-63327420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185643961	chr8:63327421-63327422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74426745	chr8:63327446-63327447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577248588	chr8:63327469-63327470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73684991	chr8:63327480-63327481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1451858	chr8:63327490-63327491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574704472	chr8:63327496-63327497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540131489	chr8:63327581-63327582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542514293	chr8:63327596-63327597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58532853	chr8:63327599-63327600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548479003	chr8:63327600-63327601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398067883	chr8:63327611-63327612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189197884	chr8:63327655-63327656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180880559	chr8:63327670-63327671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113811379	chr8:63327679-63327680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201741220	chr8:63327689-63327690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59313534	chr8:63327693-63327694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111457895	chr8:63327694-63327695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201504218	chr8:63327695-63327696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369345250	chr8:63327697-63327698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71912967	chr8:63327698-63327699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201025284	chr8:63327699-63327700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397724717	chr8:63327700-63327701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564857260	chr8:63327713-63327714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556260381	chr8:63327718-63327719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532254109	chr8:63327752-63327753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35441586	chr8:63327757-63327758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535734557	chr8:63327824-63327825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547143258	chr8:63327837-63327838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565679006	chr8:63327838-63327839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529654676	chr8:63327842-63327843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548939882	chr8:63327861-63327862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183471669	chr8:63327902-63327903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572452472	chr8:63327916-63327917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537670319	chr8:63327959-63327960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75706454	chr8:63328027-63328028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373229869	chr8:63328042-63328043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548661689	chr8:63328105-63328106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377498168	chr8:63328143-63328144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141247806	chr8:63328154-63328155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369305442	chr8:63328259-63328260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35191559	chr8:63328308-63328309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377543415	chr8:63328309-63328310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112882062	chr8:63328320-63328321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398073290	chr8:63328332-63328333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535131078	chr8:63328347-63328348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63317600-63333000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63327600-63330600	Weak transcription	Fetal Brain Male	brain

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