Variant report

Variant	esv3376189
Chromosome Location	chr8:63781948-63784421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141578528	chr8:63781958-63781959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552438891	chr8:63781976-63781977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73260815	chr8:63782024-63782025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541329255	chr8:63782051-63782052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375979524	chr8:63782053-63782054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115129804	chr8:63782056-63782057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547190766	chr8:63782059-63782060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568383443	chr8:63782079-63782080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535746628	chr8:63782083-63782084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188124364	chr8:63782093-63782094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144492199	chr8:63782108-63782109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539516176	chr8:63782166-63782167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564396644	chr8:63782201-63782202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559484593	chr8:63782237-63782238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528526669	chr8:63782269-63782270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115827502	chr8:63782283-63782284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572978499	chr8:63782315-63782316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151304393	chr8:63782322-63782323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147862074	chr8:63782328-63782329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555604257	chr8:63782337-63782338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180709692	chr8:63782341-63782342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553897733	chr8:63782350-63782351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368350085	chr8:63782351-63782352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563670391	chr8:63782389-63782390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575738674	chr8:63782396-63782397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546264985	chr8:63782412-63782413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183998580	chr8:63782447-63782448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372008817	chr8:63782450-63782451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188442612	chr8:63782451-63782452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182044170	chr8:63782453-63782454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561951845	chr8:63782467-63782468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529532828	chr8:63782491-63782492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572397488	chr8:63782495-63782496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550906669	chr8:63782544-63782545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186690482	chr8:63782551-63782552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539094421	chr8:63782558-63782559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192497093	chr8:63782621-63782622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72655013	chr8:63782643-63782644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs13248017	chr8:63782768-63782769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13280676	chr8:63782773-63782774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372577780	chr8:63782774-63782775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555591945	chr8:63782776-63782777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367788453	chr8:63782785-63782786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182066148	chr8:63782788-63782789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538116849	chr8:63782791-63782792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372938683	chr8:63782800-63782801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370536390	chr8:63782810-63782811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200367307	chr8:63782815-63782816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77272732	chr8:63782818-63782819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13280738	chr8:63782833-63782834	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63779800-63782000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:63780400-63782200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:63781800-63782200	Weak transcription	Placenta	Placenta
4	chr8:63782000-63792200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:63782200-63782400	Enhancers	Placenta	Placenta

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