Variant report

Variant	nsv456185
Chromosome Location	chr2:34302743-34313003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566742279	chr2:34305866-34305867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146343177	chr2:34305877-34305878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372758180	chr2:34305878-34305879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1346005	chr2:34305888-34305889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs545278557	chr2:34305895-34305896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58377693	chr2:34305915-34305916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111336805	chr2:34305931-34305932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537143805	chr2:34305956-34305957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557351826	chr2:34305971-34305972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57551237	chr2:34305978-34305979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545758035	chr2:34305984-34305985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147911257	chr2:34306008-34306009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148954709	chr2:34306031-34306032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61692313	chr2:34306033-34306034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562134650	chr2:34306035-34306036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531761435	chr2:34306054-34306055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78920939	chr2:34306077-34306078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550383873	chr2:34306080-34306081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79903173	chr2:34306108-34306109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550115648	chr2:34306117-34306118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191097417	chr2:34306134-34306135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57423133	chr2:34306136-34306137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566779154	chr2:34306187-34306188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60468146	chr2:34306205-34306206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs180722394	chr2:34306209-34306210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143787475	chr2:34306211-34306212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs55670974	chr2:34306253-34306254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6728254	chr2:34306303-34306304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186575476	chr2:34306304-34306305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552908722	chr2:34306312-34306313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13401714	chr2:34306320-34306321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74473192	chr2:34306339-34306340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575735394	chr2:34306355-34306356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566052454	chr2:34306375-34306376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544758826	chr2:34306378-34306379	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34305800-34306400	Enhancers	Fetal Intestine Large	intestine

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