Variant report

Variant	esv3442653
Chromosome Location	chr8:58434348-58437596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564317325	chr8:58434395-58434396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568063649	chr8:58434432-58434433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533509329	chr8:58434457-58434458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78408699	chr8:58434465-58434466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577055691	chr8:58434471-58434472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150964744	chr8:58434474-58434475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7009201	chr8:58434499-58434500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73597566	chr8:58434512-58434513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117094377	chr8:58434533-58434534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544736637	chr8:58434555-58434556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188559122	chr8:58434568-58434569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574776066	chr8:58434571-58434572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115318408	chr8:58434577-58434578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11775104	chr8:58434601-58434602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532649840	chr8:58434614-58434615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546014653	chr8:58434649-58434650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62514274	chr8:58434674-58434675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142268292	chr8:58434689-58434690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371461787	chr8:58434694-58434695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62514275	chr8:58434750-58434751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568060599	chr8:58434751-58434752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11775152	chr8:58434760-58434761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528017224	chr8:58434763-58434764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116546401	chr8:58434802-58434803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116004186	chr8:58434827-58434828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539768212	chr8:58434865-58434866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181190735	chr8:58434878-58434879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569878733	chr8:58434896-58434897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370618631	chr8:58434914-58434915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535596376	chr8:58434937-58434938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570744473	chr8:58435026-58435027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574826781	chr8:58435046-58435047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540654446	chr8:58435139-58435140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201286855	chr8:58435154-58435155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375809100	chr8:58435155-58435156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370367595	chr8:58435170-58435171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145620480	chr8:58435177-58435178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539911620	chr8:58435182-58435183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185235869	chr8:58435210-58435211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569501300	chr8:58435267-58435268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190725267	chr8:58435296-58435297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111215956	chr8:58435349-58435350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577157638	chr8:58435410-58435411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544412762	chr8:58435411-58435412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562806949	chr8:58435438-58435439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542230730	chr8:58435439-58435440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560252701	chr8:58435440-58435441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62643684	chr8:58435468-58435469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527794612	chr8:58435515-58435516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552340985	chr8:58435516-58435517	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
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
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
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
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
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58433200-58436800	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:58433200-58438000	Weak transcription	NHDF-Ad	bronchial
3	chr8:58433200-58438200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:58433400-58436800	Weak transcription	HSMM	muscle
5	chr8:58433400-58437000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:58433400-58438200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:58436800-58437000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr8:58436800-58439000	Enhancers	HSMM	muscle
9	chr8:58437000-58437800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:58437000-58437800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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