Variant report

Variant	nsv965100
Chromosome Location	chr3:51035066-51036852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 86 )

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	rs143903905	chr3:51035072-51035073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533374073	chr3:51035078-51035079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10451991	chr3:51035127-51035128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376572539	chr3:51035164-51035165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560497563	chr3:51035178-51035179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527966914	chr3:51035196-51035197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567648040	chr3:51035243-51035244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114818020	chr3:51035269-51035270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567527853	chr3:51035287-51035288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538208548	chr3:51035333-51035334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550021927	chr3:51035344-51035345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181834725	chr3:51035372-51035373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538572169	chr3:51035400-51035401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140470008	chr3:51035476-51035477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142817261	chr3:51035478-51035479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555437656	chr3:51035571-51035572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186034529	chr3:51035600-51035601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554876391	chr3:51035610-51035611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13062018	chr3:51035636-51035637	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs536034172	chr3:51035655-51035656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543367746	chr3:51035701-51035702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554654812	chr3:51035717-51035718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377658550	chr3:51035765-51035766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190487337	chr3:51035768-51035769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572813026	chr3:51035819-51035820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575250877	chr3:51035836-51035837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545238726	chr3:51035866-51035867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560295653	chr3:51035903-51035904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114015254	chr3:51035904-51035905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566693622	chr3:51035937-51035938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542933749	chr3:51036015-51036016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561592905	chr3:51036031-51036032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181620878	chr3:51036045-51036046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550101064	chr3:51036139-51036140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200301929	chr3:51036158-51036159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538932048	chr3:51036186-51036187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536918199	chr3:51036252-51036253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9863694	chr3:51036323-51036324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576887297	chr3:51036364-51036365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186389609	chr3:51036435-51036436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565904320	chr3:51036520-51036521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191296329	chr3:51036533-51036534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375220834	chr3:51036541-51036542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544956055	chr3:51036547-51036548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375148772	chr3:51036564-51036565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34002537	chr3:51036565-51036566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536696955	chr3:51036587-51036588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182674573	chr3:51036670-51036671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148479038	chr3:51036698-51036699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372676501	chr3:51036733-51036734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51033400-51037400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:51034200-51035800	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:51034600-51037400	Weak transcription	Liver	Liver

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