Variant report

Variant	nsv963370
Chromosome Location	chr3:159794245-159798503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs560412961	chr3:159794299-159794300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527359266	chr3:159794343-159794344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75307215	chr3:159794352-159794353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199962524	chr3:159794360-159794361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201129537	chr3:159794371-159794372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567263698	chr3:159794413-159794414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537896885	chr3:159794481-159794482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549516499	chr3:159794502-159794503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572223483	chr3:159794513-159794514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569497291	chr3:159794565-159794566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539764570	chr3:159794604-159794605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375103750	chr3:159794673-159794674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573132791	chr3:159794699-159794700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144412573	chr3:159794733-159794734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185401510	chr3:159794735-159794736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369083689	chr3:159794739-159794740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574051804	chr3:159794742-159794743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373020217	chr3:159794831-159794832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189931565	chr3:159794899-159794900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376261785	chr3:159794913-159794914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192993595	chr3:159794932-159794933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149996547	chr3:159794948-159794949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540829709	chr3:159794970-159794971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555294428	chr3:159795020-159795021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369693300	chr3:159795021-159795022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560853714	chr3:159795064-159795065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374613544	chr3:159795075-159795076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184752004	chr3:159795078-159795079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78246362	chr3:159795082-159795083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111650312	chr3:159795111-159795112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs386398379	chr3:159795112-159795113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386398380	chr3:159795124-159795125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs36119321	chr3:159795125-159795126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35046092	chr3:159795152-159795153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377741838	chr3:159795181-159795182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146679362	chr3:159795191-159795192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537433349	chr3:159795194-159795195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140208784	chr3:159795197-159795198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188373053	chr3:159795202-159795203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145900739	chr3:159795230-159795231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533657894	chr3:159795231-159795232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535255438	chr3:159795295-159795296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553571386	chr3:159795315-159795316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566720674	chr3:159795323-159795324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534080566	chr3:159795334-159795335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145388260	chr3:159795380-159795381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149197200	chr3:159795399-159795400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537976957	chr3:159795401-159795402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556499010	chr3:159795403-159795404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577986859	chr3:159795470-159795471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159794000-159796600	Enhancers	HepG2	liver
2	chr3:159794200-159794400	Enhancers	Esophagus	oesophagus
3	chr3:159794200-159794400	Enhancers	Gastric	stomach
4	chr3:159794400-159797400	Weak transcription	Esophagus	oesophagus
5	chr3:159794400-159803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:159797000-159797200	Enhancers	Gastric	stomach
7	chr3:159797200-159800000	Weak transcription	Gastric	stomach
8	chr3:159797400-159798600	Enhancers	Esophagus	oesophagus

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