Variant report

Variant	nsv523317
Chromosome Location	chr8:64019832-64023705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:64017039..64019542-chr8:64021358..64023384,2	K562	blood:
2	chr8:63883110..63885219-chr8:64022208..64024652,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4739049	chr8:64022204-64022205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575298422	chr8:64022235-64022236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34550658	chr8:64022245-64022246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545884845	chr8:64022249-64022250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564288450	chr8:64022294-64022295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528327592	chr8:64022355-64022356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540406171	chr8:64022386-64022387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538997138	chr8:64022400-64022401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531366959	chr8:64022434-64022435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116516084	chr8:64022436-64022437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529136666	chr8:64022467-64022468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548567454	chr8:64022505-64022506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548471360	chr8:64022562-64022563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189882745	chr8:64022589-64022590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4737629	chr8:64022675-64022676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs570592570	chr8:64022822-64022823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533815630	chr8:64022933-64022934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377364435	chr8:64022973-64022974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181142176	chr8:64022974-64022975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6985469	chr8:64023017-64023018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186183946	chr8:64023120-64023121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72659867	chr8:64023122-64023123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190558498	chr8:64023131-64023132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183527735	chr8:64023133-64023134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141807104	chr8:64023165-64023166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369499399	chr8:64023232-64023233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199901562	chr8:64023233-64023234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28562748	chr8:64023258-64023259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375110115	chr8:64023379-64023380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372659980	chr8:64023416-64023417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545799420	chr8:64023421-64023422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557914159	chr8:64023440-64023441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572972284	chr8:64023447-64023448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187363292	chr8:64023468-64023469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190977941	chr8:64023487-64023488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573901545	chr8:64023500-64023501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544145153	chr8:64023505-64023506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562787152	chr8:64023549-64023550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377433250	chr8:64023589-64023590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544451295	chr8:64023602-64023603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200340613	chr8:64023623-64023624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555260608	chr8:64023639-64023640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369679697	chr8:64023669-64023670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368190398	chr8:64023672-64023673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2043526	chr8:64023705-64023706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64022200-64022400	Enhancers	Fetal Intestine Small	intestine
2	chr8:64022400-64023600	Weak transcription	Fetal Intestine Small	intestine
3	chr8:64023400-64023600	Enhancers	Fetal Intestine Large	intestine
4	chr8:64023600-64024000	Enhancers	Fetal Intestine Small	intestine

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