Variant report

Variant	nsv968096
Chromosome Location	chr5:59431504-59437537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574419835	chr5:59431588-59431589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78781290	chr5:59431628-59431629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148539155	chr5:59431637-59431638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs66536587	chr5:59431639-59431640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543434070	chr5:59431780-59431781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371400638	chr5:59431834-59431835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532127531	chr5:59431848-59431849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374703814	chr5:59432045-59432046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574608284	chr5:59432050-59432051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545613135	chr5:59432051-59432052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144175877	chr5:59432114-59432115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs33928836	chr5:59432143-59432144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112729332	chr5:59432154-59432155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201394951	chr5:59432156-59432157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528544807	chr5:59432202-59432203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548712902	chr5:59432244-59432245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201866550	chr5:59432255-59432256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190486277	chr5:59432271-59432272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530945168	chr5:59432329-59432330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183082003	chr5:59432345-59432346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529359463	chr5:59432404-59432405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571184555	chr5:59432412-59432413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375382818	chr5:59432432-59432433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553587772	chr5:59432453-59432454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146549244	chr5:59432493-59432494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534416437	chr5:59432504-59432505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554689391	chr5:59432507-59432508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574308419	chr5:59432515-59432516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187055093	chr5:59432526-59432527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541120434	chr5:59432534-59432535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13160694	chr5:59432542-59432543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576740496	chr5:59432562-59432563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191287368	chr5:59432641-59432642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182766702	chr5:59432667-59432668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187738724	chr5:59432678-59432679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528314092	chr5:59432721-59432722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541920253	chr5:59432723-59432724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562215062	chr5:59432739-59432740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6872268	chr5:59432804-59432805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550970638	chr5:59432848-59432849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6887486	chr5:59432851-59432852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139398469	chr5:59432872-59432873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547364170	chr5:59432874-59432875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567060631	chr5:59432896-59432897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536054091	chr5:59432950-59432951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554318446	chr5:59432954-59432955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541636926	chr5:59432969-59432970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568167679	chr5:59433024-59433025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62370616	chr5:59433066-59433067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556519731	chr5:59433091-59433092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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	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	chr5:59411000-59443400	Weak transcription	Aorta	Aorta
2	chr5:59427400-59447400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:59427800-59436800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:59428000-59443400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr5:59436800-59437400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:59437200-59442400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:59437400-59442000	Weak transcription	Monocytes-CD14+_RO01746	blood

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