Variant report

Variant	nsv525870
Chromosome Location	chr5:164443094-164448888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4547947	chr5:164443094-164443095	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191695184	chr5:164443133-164443134	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542163471	chr5:164443139-164443140	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183590744	chr5:164443161-164443162	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs4628011	chr5:164443205-164443206	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551903391	chr5:164443207-164443208	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs564083603	chr5:164443215-164443216	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569495668	chr5:164443231-164443232	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73801639	chr5:164443241-164443242	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536546306	chr5:164443268-164443269	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188043364	chr5:164443269-164443270	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11402861	chr5:164443300-164443301	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568306338	chr5:164443342-164443343	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535646969	chr5:164443351-164443352	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140571577	chr5:164443358-164443359	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs569188592	chr5:164443365-164443366	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs558517259	chr5:164443366-164443367	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs34073399	chr5:164443367-164443368	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200965248	chr5:164443370-164443371	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201484436	chr5:164443371-164443372	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs60516522	chr5:164443383-164443384	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs375414418	chr5:164443384-164443385	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370922129	chr5:164443431-164443432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191024988	chr5:164443444-164443445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182306618	chr5:164443445-164443446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558708788	chr5:164443464-164443465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570809799	chr5:164443465-164443466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534847197	chr5:164443466-164443467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562657761	chr5:164443467-164443468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77026187	chr5:164443494-164443495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186631192	chr5:164443498-164443499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74538034	chr5:164443505-164443506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79998111	chr5:164443512-164443513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574546048	chr5:164443528-164443529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372457163	chr5:164443529-164443530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144393141	chr5:164443556-164443557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146635588	chr5:164443566-164443567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560043091	chr5:164443567-164443568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533853874	chr5:164443634-164443635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115616982	chr5:164443687-164443688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546457253	chr5:164443711-164443712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199644070	chr5:164443722-164443723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577034511	chr5:164443729-164443730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76591876	chr5:164443732-164443733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112578491	chr5:164443736-164443737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192941361	chr5:164443756-164443757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370011264	chr5:164443763-164443764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11135340	chr5:164443796-164443797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574674168	chr5:164443800-164443801	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	19115005	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164440800-164443400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:164442000-164443400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:164442400-164443400	Enhancers	Colon Smooth Muscle	Colon
4	chr5:164442400-164443800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:164443400-164443600	Enhancers	Monocytes-CD14+_RO01746	blood

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