Variant report

Variant	nsv517684
Chromosome Location	chr8:58355426-58367822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 489 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16922179	chr8:58355426-58355427	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553834991	chr8:58355469-58355470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201640905	chr8:58355472-58355473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150434092	chr8:58355510-58355511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545790662	chr8:58355514-58355515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112204319	chr8:58355518-58355519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140330802	chr8:58355529-58355530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372130656	chr8:58355548-58355549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542079483	chr8:58355562-58355563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11996539	chr8:58355572-58355573	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551366948	chr8:58355580-58355581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371173096	chr8:58355581-58355582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192856642	chr8:58355582-58355583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547541118	chr8:58355585-58355586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60275254	chr8:58355594-58355595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570557147	chr8:58355615-58355616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2325657	chr8:58355621-58355622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78111020	chr8:58355622-58355623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145505061	chr8:58355625-58355626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189285602	chr8:58355630-58355631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565901891	chr8:58355647-58355648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534489884	chr8:58355724-58355725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537341754	chr8:58355727-58355728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193097828	chr8:58355811-58355812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72654829	chr8:58355835-58355836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184678582	chr8:58355879-58355880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545795075	chr8:58355905-58355906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556492793	chr8:58355943-58355944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7011998	chr8:58355971-58355972	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542543393	chr8:58355997-58355998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562220562	chr8:58356011-58356012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10106017	chr8:58356061-58356062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563898304	chr8:58356172-58356173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73684432	chr8:58356175-58356176	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374254659	chr8:58356189-58356190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536481131	chr8:58356289-58356290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564177392	chr8:58356308-58356309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552998171	chr8:58356388-58356389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376468083	chr8:58356425-58356426	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs138120040	chr8:58356426-58356427	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549534997	chr8:58356429-58356430	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563263496	chr8:58356460-58356461	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs528869179	chr8:58356511-58356512	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs549288487	chr8:58356551-58356552	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs565635002	chr8:58356566-58356567	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs11990437	chr8:58356572-58356573	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538582048	chr8:58356575-58356576	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149539179	chr8:58356616-58356617	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs115562603	chr8:58356617-58356618	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs189077001	chr8:58356627-58356628	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58353000-58364400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:58354800-58356400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr8:58354800-58359800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:58356400-58357000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr8:58357000-58357600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:58357600-58358400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr8:58358400-58360400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr8:58359200-58359600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:58359800-58362200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr8:58360000-58361000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:58360000-58361200	Enhancers	GM12878-XiMat	blood
12	chr8:58360400-58361000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr8:58360600-58361000	Enhancers	Primary B cells from cord blood	blood
14	chr8:58360600-58361000	Enhancers	Spleen	Spleen
15	chr8:58361000-58361400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr8:58361000-58362400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:58361200-58361600	Weak transcription	GM12878-XiMat	blood
18	chr8:58361400-58361800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:58361600-58362000	Enhancers	GM12878-XiMat	blood
20	chr8:58361600-58362200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:58361800-58362000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:58362000-58362800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr8:58362200-58368000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:58362600-58362800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:58362600-58363200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:58362800-58364400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:58363000-58364000	Enhancers	Fetal Lung	lung
28	chr8:58363200-58370000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:58364000-58365000	Weak transcription	Fetal Lung	lung
30	chr8:58365200-58365400	Enhancers	Fetal Lung	lung
31	chr8:58366800-58370000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:58367800-58370200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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