Variant report

Variant	nsv968509
Chromosome Location	chr8:60926652-60932214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:60928178..60929748-chr8:60930851..60932873,2	K562	blood:
2	chr8:60928178..60929748-chr8:60930851..60932873,2	K562	blood:
3	chr8:60929909..60932479-chr8:60938404..60940502,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145982075	chr8:60930601-60930602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139853081	chr8:60930612-60930613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533351730	chr8:60930618-60930619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551506632	chr8:60930647-60930648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181890397	chr8:60930681-60930682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114630739	chr8:60930702-60930703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185037906	chr8:60930729-60930730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567822025	chr8:60930739-60930740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142179141	chr8:60930775-60930776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs16925547	chr8:60930779-60930780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188199179	chr8:60930786-60930787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539412314	chr8:60930889-60930890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371948345	chr8:60930895-60930896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539291549	chr8:60930896-60930897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144766186	chr8:60930923-60930924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572958440	chr8:60930942-60930943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540295094	chr8:60930997-60930998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555622272	chr8:60931020-60931021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370647477	chr8:60931098-60931099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573740253	chr8:60931123-60931124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148590826	chr8:60931129-60931130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113299688	chr8:60931183-60931184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180760006	chr8:60931303-60931304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs700726	chr8:60931328-60931329	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544988188	chr8:60931329-60931330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560082978	chr8:60931387-60931388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527805529	chr8:60931412-60931413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142950506	chr8:60931431-60931432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17280265	chr8:60931436-60931437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550251637	chr8:60931451-60931452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544711992	chr8:60931457-60931458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186141800	chr8:60931471-60931472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151038947	chr8:60931474-60931475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574889784	chr8:60931489-60931490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557801731	chr8:60931501-60931502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17280286	chr8:60931515-60931516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576082854	chr8:60931525-60931526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75400489	chr8:60931543-60931544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573801533	chr8:60931621-60931622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191015305	chr8:60931647-60931648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556221372	chr8:60931667-60931668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577886009	chr8:60931684-60931685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181386410	chr8:60931718-60931719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186751013	chr8:60931723-60931724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190659600	chr8:60931812-60931813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72663214	chr8:60931898-60931899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561428630	chr8:60931937-60931938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531837898	chr8:60931966-60931967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550333042	chr8:60931986-60931987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565300521	chr8:60932001-60932002	Enhancers	n/a	n/a	Overlapped CNVs	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
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
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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60930600-60932200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:60931200-60932600	Enhancers	Fetal Lung	lung

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