Variant report

Variant	nsv980988
Chromosome Location	chr5:99050862-99065724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527684001	chr5:99055400-99055401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552293836	chr5:99055440-99055441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570886869	chr5:99055486-99055487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113113876	chr5:99055488-99055489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs5869870	chr5:99055519-99055520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531860155	chr5:99055524-99055525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs60371291	chr5:99055534-99055535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187829095	chr5:99055548-99055549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1462416	chr5:99055560-99055561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115047491	chr5:99055575-99055576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1462415	chr5:99055603-99055604	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566290006	chr5:99055625-99055626	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs375304294	chr5:99055632-99055633	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs557476585	chr5:99055635-99055636	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs533742763	chr5:99055645-99055646	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs536771656	chr5:99055664-99055665	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs76044577	chr5:99055686-99055687	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs191943206	chr5:99055715-99055716	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs73774045	chr5:99055727-99055728	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs369640016	chr5:99055777-99055778	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs559553332	chr5:99055799-99055800	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs541822149	chr5:99055841-99055842	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs182784844	chr5:99055865-99055866	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs112515459	chr5:99055927-99055928	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs1381649	chr5:99056020-99056021	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144221577	chr5:99056033-99056034	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs77772679	chr5:99056054-99056055	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs531770623	chr5:99056057-99056058	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs550279683	chr5:99056079-99056080	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs562201773	chr5:99056082-99056083	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs529505681	chr5:99056136-99056137	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs146570405	chr5:99056146-99056147	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs199736631	chr5:99056183-99056184	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs566320532	chr5:99056209-99056210	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs78737853	chr5:99056214-99056215	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs551329388	chr5:99056268-99056269	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs76868637	chr5:99056283-99056284	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs536688137	chr5:99056315-99056316	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs77427336	chr5:99056382-99056383	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs1462414	chr5:99056459-99056460	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534772913	chr5:99056487-99056488	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs1462413	chr5:99056545-99056546	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544950287	chr5:99056570-99056571	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs563612038	chr5:99056604-99056605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367581535	chr5:99056618-99056619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564618076	chr5:99056622-99056623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566450490	chr5:99056624-99056625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143545273	chr5:99056655-99056656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369892708	chr5:99056702-99056703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543886091	chr5:99056714-99056715	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
Acute lymphoblastic leukemia	21248843	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99055400-99056400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:99055600-99056400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:99055600-99056600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
4	chr5:99055800-99056600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:99056000-99056400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:99056600-99057800	Enhancers	HepG2	liver
7	chr5:99057400-99057800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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