Variant report

Variant	nsv519555
Chromosome Location	chr12:118146899-118150989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118134197..118136357-chr12:118149641..118152482,2	K562	blood:

Extended variants
information (count: 167 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:167 , 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	rs895471	chr12:118146899-118146900	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs140946500	chr12:118146971-118146972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149093021	chr12:118146973-118146974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144674525	chr12:118147020-118147021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573903850	chr12:118147028-118147029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543003763	chr12:118147093-118147094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532618202	chr12:118147122-118147123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182287480	chr12:118147128-118147129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546329429	chr12:118147131-118147132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562781969	chr12:118147205-118147206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372278460	chr12:118147221-118147222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576464854	chr12:118147222-118147223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58560266	chr12:118147248-118147249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369386238	chr12:118147249-118147250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186902757	chr12:118147262-118147263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191700290	chr12:118147273-118147274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386766782	chr12:118147279-118147280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs746967	chr12:118147281-118147282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569404861	chr12:118147295-118147296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567485304	chr12:118147311-118147312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530368815	chr12:118147316-118147317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1550851	chr12:118147341-118147342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145767215	chr12:118147358-118147359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11068638	chr12:118147389-118147390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532991154	chr12:118147392-118147393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373647812	chr12:118147440-118147441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183756623	chr12:118147448-118147449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148545070	chr12:118147464-118147465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78837055	chr12:118147467-118147468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554386584	chr12:118147544-118147545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117451816	chr12:118147554-118147555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566666272	chr12:118147578-118147579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11068639	chr12:118147606-118147607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536977790	chr12:118147633-118147634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538297963	chr12:118147639-118147640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76750862	chr12:118147650-118147651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142791019	chr12:118147679-118147680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375864766	chr12:118147695-118147696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73213832	chr12:118147702-118147703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs151043431	chr12:118147743-118147744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541636322	chr12:118147750-118147751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561358088	chr12:118147775-118147776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141095572	chr12:118147779-118147780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550230982	chr12:118147791-118147792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372983844	chr12:118147834-118147835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563263509	chr12:118147891-118147892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532023818	chr12:118147892-118147893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555221688	chr12:118147914-118147915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185327059	chr12:118147955-118147956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190123909	chr12:118147988-118147989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118132000-118152400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links