Variant report

Variant	nsv558004
Chromosome Location	chr12:30474815-30480514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12311468	chr12:30474815-30474816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184778412	chr12:30474847-30474848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547161619	chr12:30474870-30474871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4426203	chr12:30474883-30474884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4564417	chr12:30474902-30474903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138871109	chr12:30474906-30474907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553500174	chr12:30474920-30474921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4032080	chr12:30474937-30474938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs534218960	chr12:30474962-30474963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555682716	chr12:30474972-30474973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573881352	chr12:30474976-30474977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142805763	chr12:30474992-30474993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556586676	chr12:30474994-30474995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578040603	chr12:30475000-30475001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545338644	chr12:30475004-30475005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12311583	chr12:30475005-30475006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536999847	chr12:30475060-30475061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12305794	chr12:30475061-30475062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4032081	chr12:30475068-30475069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs149369002	chr12:30475113-30475114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531508775	chr12:30475142-30475143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549727771	chr12:30475143-30475144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2700032	chr12:30475144-30475145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73073995	chr12:30475148-30475149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4032082	chr12:30475161-30475162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565329286	chr12:30475186-30475187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535878850	chr12:30475189-30475190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555619009	chr12:30475240-30475241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578215651	chr12:30475284-30475285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374021445	chr12:30475289-30475290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367597772	chr12:30475318-30475319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12306028	chr12:30475319-30475320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187551638	chr12:30475340-30475341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12313162	chr12:30475390-30475391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545159974	chr12:30475395-30475396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577664554	chr12:30475401-30475402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193022488	chr12:30475485-30475486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572446424	chr12:30475514-30475515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185158526	chr12:30475551-30475552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375037594	chr12:30475556-30475557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372153168	chr12:30475558-30475559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73073998	chr12:30475597-30475598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11613370	chr12:30475599-30475600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543559211	chr12:30475631-30475632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564930983	chr12:30475681-30475682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190012310	chr12:30475694-30475695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181225850	chr12:30475703-30475704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117768441	chr12:30475743-30475744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572240669	chr12:30475752-30475753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542437548	chr12:30475755-30475756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30471400-30476000	Weak transcription	Gastric	stomach

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