Variant report

Variant	nsv522428
Chromosome Location	chr8:51507559-51519246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10087389	chr8:51516235-51516236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544803388	chr8:51516236-51516237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145156676	chr8:51516265-51516266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147989952	chr8:51516271-51516272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4617166	chr8:51516341-51516342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560708235	chr8:51516342-51516343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190188791	chr8:51516363-51516364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182778815	chr8:51516393-51516394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565968908	chr8:51516426-51516427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533347466	chr8:51516477-51516478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112823009	chr8:51516552-51516553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35900863	chr8:51516560-51516561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551627289	chr8:51516562-51516563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570163851	chr8:51516630-51516631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10087631	chr8:51516634-51516635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10101423	chr8:51516667-51516668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567823277	chr8:51516702-51516703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535359393	chr8:51516707-51516708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10090779	chr8:51516744-51516745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577600101	chr8:51516753-51516754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113964374	chr8:51516773-51516774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544979430	chr8:51516790-51516791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187253505	chr8:51516798-51516799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150501480	chr8:51516805-51516806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542281436	chr8:51516809-51516810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529260758	chr8:51516815-51516816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560771046	chr8:51516860-51516861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35704744	chr8:51516881-51516882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192028400	chr8:51516899-51516900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183723296	chr8:51516926-51516927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565177918	chr8:51516967-51516968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374240854	chr8:51516982-51516983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113701106	chr8:51516989-51516990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368771784	chr8:51516990-51516991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77489258	chr8:51516997-51516998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147417717	chr8:51517019-51517020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534789309	chr8:51517033-51517034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139657305	chr8:51517037-51517038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79848595	chr8:51517049-51517050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567885800	chr8:51517122-51517123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145315452	chr8:51517144-51517145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547065648	chr8:51517174-51517175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147635959	chr8:51517201-51517202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188596086	chr8:51517215-51517216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556932233	chr8:51517246-51517247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529588365	chr8:51517260-51517261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574866257	chr8:51517270-51517271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570548241	chr8:51517275-51517276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542342740	chr8:51517284-51517285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554229173	chr8:51517292-51517293	Weak transcription	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
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
Lung cancer	18438408	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
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51516200-51520400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:51517600-51518200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:51518200-51529000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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