Variant report

Variant	nsv438057
Chromosome Location	chr8:58364003-58365122
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	rs1868841	chr8:58364003-58364004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566399466	chr8:58364009-58364010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7017841	chr8:58364039-58364040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184699633	chr8:58364075-58364076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56092901	chr8:58364097-58364098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188544134	chr8:58364204-58364205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75232794	chr8:58364207-58364208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111903619	chr8:58364249-58364250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10957001	chr8:58364300-58364301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs79389511	chr8:58364314-58364315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552515553	chr8:58364351-58364352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572486704	chr8:58364385-58364386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545003330	chr8:58364397-58364398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368352243	chr8:58364407-58364408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565181815	chr8:58364408-58364409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541315338	chr8:58364431-58364432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546499263	chr8:58364495-58364496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575388905	chr8:58364506-58364507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544353717	chr8:58364544-58364545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193075673	chr8:58364557-58364558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2325743	chr8:58364585-58364586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs375182432	chr8:58364594-58364595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75151772	chr8:58364642-58364643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184885150	chr8:58364650-58364651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369083026	chr8:58364652-58364653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189930688	chr8:58364655-58364656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576529511	chr8:58364673-58364674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149403665	chr8:58364703-58364704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561582262	chr8:58364725-58364726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181139905	chr8:58364743-58364744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537258357	chr8:58364784-58364785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144808887	chr8:58364822-58364823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2325744	chr8:58364888-58364889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535973241	chr8:58364970-58364971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374829630	chr8:58365024-58365025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55662716	chr8:58365079-58365080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551226836	chr8:58365107-58365108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572796953	chr8:58365110-58365111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538618929	chr8:58365112-58365113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7817044	chr8:58365122-58365123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58353000-58364400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:58362200-58368000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:58362800-58364400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr8:58363200-58370000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:58364000-58365000	Weak transcription	Fetal Lung	lung

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