Variant report

Variant	nsv396113
Chromosome Location	chr8:50200674-50202999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:50169460..50172760-chr8:50198302..50201832,3	K562	blood:
2	chr8:50201423..50203830-chr8:50212097..50214084,2	K562	blood:
3	chr8:50198141..50200837-chr8:50202344..50203937,2	K562	blood:
4	chr8:50201423..50204477-chr8:50211622..50215340,4	K562	blood:
5	chr8:50198141..50200837-chr8:50202344..50203937,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200329907	chr8:50201201-50201202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183660362	chr8:50201215-50201216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141381838	chr8:50201241-50201242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543943353	chr8:50201286-50201287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561927731	chr8:50201301-50201302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188710256	chr8:50201306-50201307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542101505	chr8:50201319-50201320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560471816	chr8:50201334-50201335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541891822	chr8:50201352-50201353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150823406	chr8:50201353-50201354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527616978	chr8:50201354-50201355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373000810	chr8:50201386-50201387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552062781	chr8:50201426-50201427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192842992	chr8:50201429-50201430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375297041	chr8:50201439-50201440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549856733	chr8:50201455-50201456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139462293	chr8:50201483-50201484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79687181	chr8:50201509-50201510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547651244	chr8:50201515-50201516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111444004	chr8:50201516-50201517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531037123	chr8:50201558-50201559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17664982	chr8:50201570-50201571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184988816	chr8:50201612-50201613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17721300	chr8:50201615-50201616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544817796	chr8:50201616-50201617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186943002	chr8:50201648-50201649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563831471	chr8:50201665-50201666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191437970	chr8:50201672-50201673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536956206	chr8:50201686-50201687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114074577	chr8:50201762-50201763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144206327	chr8:50201771-50201772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559811565	chr8:50201825-50201826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572365023	chr8:50201829-50201830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146567164	chr8:50201841-50201842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376657709	chr8:50201879-50201880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566901000	chr8:50201894-50201895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564084957	chr8:50201987-50201988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542288346	chr8:50202020-50202021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140088714	chr8:50202024-50202025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549577866	chr8:50202089-50202090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58786651	chr8:50202096-50202097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398112445	chr8:50202097-50202098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372214881	chr8:50202100-50202101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376721007	chr8:50202101-50202102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149818916	chr8:50202160-50202161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530802884	chr8:50202177-50202178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6990367	chr8:50202210-50202211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs115863731	chr8:50202217-50202218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539739719	chr8:50202269-50202270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552053048	chr8:50202294-50202295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50201200-50201400	Enhancers	K562	blood
2	chr8:50201400-50203600	Weak transcription	K562	blood

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