Variant report

Variant	nsv968832
Chromosome Location	chr5:59252977-59265032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 435 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73761068	chr5:59252999-59253000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145065552	chr5:59253018-59253019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546751535	chr5:59253058-59253059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566827569	chr5:59253115-59253116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376728935	chr5:59253120-59253121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147320719	chr5:59253132-59253133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548186040	chr5:59253152-59253153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571371722	chr5:59253201-59253202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567951223	chr5:59253218-59253219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538799919	chr5:59253224-59253225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558517625	chr5:59253226-59253227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371648186	chr5:59253232-59253233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75869377	chr5:59253286-59253287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570520078	chr5:59253363-59253364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376874442	chr5:59253371-59253372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200275030	chr5:59253380-59253381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575608408	chr5:59253389-59253390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73761069	chr5:59253431-59253432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553173304	chr5:59253482-59253483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576672784	chr5:59253499-59253500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7446232	chr5:59253550-59253551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200292889	chr5:59253563-59253564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573945940	chr5:59253604-59253605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117863448	chr5:59253709-59253710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575545365	chr5:59253722-59253723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182745003	chr5:59253762-59253763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564250491	chr5:59253824-59253825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541189114	chr5:59253830-59253831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576661421	chr5:59253842-59253843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533207431	chr5:59253929-59253930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10472116	chr5:59253953-59253954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190001912	chr5:59254003-59254004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529628607	chr5:59254046-59254047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549392202	chr5:59254095-59254096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568096570	chr5:59254118-59254119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183134207	chr5:59254139-59254140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550545915	chr5:59254146-59254147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80006743	chr5:59254158-59254159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539504311	chr5:59254242-59254243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111914221	chr5:59254247-59254248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116375620	chr5:59254262-59254263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566527712	chr5:59254340-59254341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140996816	chr5:59254361-59254362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555363882	chr5:59254385-59254386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545185559	chr5:59254443-59254444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144932814	chr5:59254491-59254492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187775882	chr5:59254521-59254522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192508283	chr5:59254539-59254540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184014962	chr5:59254540-59254541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540316563	chr5:59254579-59254580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59206400-59278800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:59252200-59256800	Weak transcription	Adipose Nuclei	Adipose
3	chr5:59252600-59254800	Weak transcription	Fetal Brain Male	brain
4	chr5:59254800-59255000	Enhancers	Fetal Brain Male	brain
5	chr5:59256800-59257800	Enhancers	Adipose Nuclei	Adipose
6	chr5:59257200-59257400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:59260600-59278600	Weak transcription	Primary monocytes fromperipheralblood	blood

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