Variant report

Variant	nsv964789
Chromosome Location	chr5:101405288-101409598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184484480	chr5:101405307-101405308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376868499	chr5:101405462-101405463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569731040	chr5:101405504-101405505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11242323	chr5:101405533-101405534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs556217431	chr5:101405569-101405570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537150885	chr5:101405636-101405637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190217981	chr5:101405681-101405682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182443154	chr5:101405692-101405693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185746560	chr5:101405729-101405730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534361156	chr5:101405754-101405755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74601719	chr5:101405760-101405761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572677753	chr5:101405810-101405811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539617258	chr5:101405819-101405820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145321050	chr5:101405847-101405848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368097795	chr5:101405889-101405890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541730014	chr5:101405908-101405909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115282792	chr5:101405940-101405941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151099773	chr5:101405985-101405986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189036146	chr5:101406019-101406020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554852181	chr5:101406064-101406065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571605638	chr5:101406106-101406107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181176402	chr5:101406143-101406144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141026916	chr5:101406167-101406168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150277317	chr5:101406168-101406169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551558735	chr5:101406174-101406175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537205427	chr5:101406177-101406178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138920544	chr5:101406244-101406245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79481117	chr5:101406274-101406275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79616340	chr5:101406276-101406277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2400568	chr5:101406331-101406332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185667120	chr5:101406355-101406356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1477618	chr5:101406364-101406365	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566328612	chr5:101406367-101406368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539754813	chr5:101406386-101406387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557884330	chr5:101406391-101406392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191442568	chr5:101406431-101406432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537290256	chr5:101406467-101406468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13168060	chr5:101406502-101406503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182400118	chr5:101406524-101406525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541916405	chr5:101406547-101406548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541378542	chr5:101406556-101406557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13182532	chr5:101406591-101406592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs35180328	chr5:101406612-101406613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577962824	chr5:101406623-101406624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143012532	chr5:101406633-101406634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563614063	chr5:101406683-101406684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530707383	chr5:101406728-101406729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548933093	chr5:101406752-101406753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186153818	chr5:101406789-101406790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147047089	chr5:101406802-101406803	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101405000-101405600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:101405400-101405600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:101405400-101405800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:101405600-101407000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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