Variant report

Variant	esv2528133
Chromosome Location	chr8:52585076-52586328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555154990	chr8:52585083-52585084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538257432	chr8:52585096-52585097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35775972	chr8:52585117-52585118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540886546	chr8:52585129-52585130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565467117	chr8:52585136-52585137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7007741	chr8:52585139-52585140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544320571	chr8:52585189-52585190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80252470	chr8:52585194-52585195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6988401	chr8:52585295-52585296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546941853	chr8:52585365-52585366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144984638	chr8:52585412-52585413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147170046	chr8:52585430-52585431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552427818	chr8:52585460-52585461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11987250	chr8:52585513-52585514	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75488701	chr8:52585578-52585579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549471727	chr8:52585580-52585581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568066510	chr8:52585621-52585622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535515156	chr8:52585657-52585658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370729331	chr8:52585660-52585661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139499717	chr8:52585683-52585684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573452518	chr8:52585734-52585735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186945385	chr8:52585755-52585756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565333730	chr8:52585795-52585796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11990577	chr8:52585796-52585797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs55927765	chr8:52585808-52585809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533340175	chr8:52585848-52585849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7845169	chr8:52585862-52585863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574505130	chr8:52585881-52585882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541902240	chr8:52585991-52585992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149725790	chr8:52586039-52586040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527480760	chr8:52586050-52586051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192088505	chr8:52586078-52586079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145555681	chr8:52586111-52586112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183317309	chr8:52586137-52586138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76696976	chr8:52586155-52586156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568026413	chr8:52586212-52586213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535478664	chr8:52586223-52586224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547510637	chr8:52586276-52586277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs41372147	chr8:52586278-52586279	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs568273786	chr8:52586326-52586327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52580600-52585400	Weak transcription	Fetal Lung	lung
2	chr8:52580600-52585800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:52580600-52586000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:52580800-52598800	Weak transcription	Right Atrium	heart
5	chr8:52583400-52589000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:52585000-52595000	Weak transcription	Left Ventricle	heart
7	chr8:52585400-52586600	Enhancers	Fetal Lung	lung
8	chr8:52585800-52587800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:52586000-52586800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:52586000-52587400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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