Variant report

Variant	esv1816195
Chromosome Location	chr8:52029240-52031261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10100485	chr8:52029240-52029241	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538588586	chr8:52029255-52029256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557296087	chr8:52029318-52029319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569145641	chr8:52029358-52029359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536468355	chr8:52029364-52029365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140030084	chr8:52029387-52029388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572973823	chr8:52029388-52029389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572176838	chr8:52029397-52029398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530648490	chr8:52029403-52029404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10090890	chr8:52029420-52029421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs551928772	chr8:52029431-52029432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368484394	chr8:52029458-52029459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371350358	chr8:52029492-52029493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1869757	chr8:52029567-52029568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531143869	chr8:52029615-52029616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74846552	chr8:52029657-52029658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28460246	chr8:52029666-52029667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1869756	chr8:52029669-52029670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528674994	chr8:52029692-52029693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12544225	chr8:52029738-52029739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184657768	chr8:52029742-52029743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570224933	chr8:52029754-52029755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563292390	chr8:52029755-52029756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12549225	chr8:52029775-52029776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371615440	chr8:52029820-52029821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189447557	chr8:52029823-52029824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12541840	chr8:52029844-52029845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs147570154	chr8:52029886-52029887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12549244	chr8:52029916-52029917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113874397	chr8:52029924-52029925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528132580	chr8:52029939-52029940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180833210	chr8:52029950-52029951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545082622	chr8:52029951-52029952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144168157	chr8:52029970-52029971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575229172	chr8:52029982-52029983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372111465	chr8:52030043-52030044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs28625320	chr8:52030069-52030070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561587588	chr8:52030076-52030077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546279081	chr8:52030151-52030152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571502617	chr8:52030155-52030156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540792525	chr8:52030170-52030171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564845843	chr8:52030174-52030175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35482560	chr8:52030179-52030180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28612111	chr8:52030181-52030182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550677033	chr8:52030183-52030184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28499187	chr8:52030184-52030185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs67401108	chr8:52030231-52030232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184910560	chr8:52030238-52030239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376417791	chr8:52030243-52030244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs67449945	chr8:52030255-52030256	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52028200-52029400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:52029200-52030200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr8:52030200-52035000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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