Variant report

Variant	nsv519487
Chromosome Location	chr1:119289994-119291382
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	chr1:119288031..119290342-chr1:119291102..119293606,3	MCF-7	breast:
2	chr1:119288031..119290342-chr1:119291102..119293606,3	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 83 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2147780	chr1:119289994-119289995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554528882	chr1:119290000-119290001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567679573	chr1:119290004-119290005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553780144	chr1:119290016-119290017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182451483	chr1:119290119-119290120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12043840	chr1:119290178-119290179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151290139	chr1:119290205-119290206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187582749	chr1:119290236-119290237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545319735	chr1:119290261-119290262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554343746	chr1:119290273-119290274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374713501	chr1:119290295-119290296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572505257	chr1:119290345-119290346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543320083	chr1:119290346-119290347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190850787	chr1:119290370-119290371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531231594	chr1:119290424-119290425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6704254	chr1:119290441-119290442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs36117066	chr1:119290453-119290454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368215530	chr1:119290454-119290455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113283746	chr1:119290482-119290483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183924706	chr1:119290488-119290489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113530771	chr1:119290512-119290513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4024602	chr1:119290517-119290518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555113920	chr1:119290523-119290524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529817872	chr1:119290610-119290611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548486704	chr1:119290651-119290652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566940231	chr1:119290689-119290690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569943999	chr1:119290706-119290707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188923239	chr1:119290713-119290714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192948302	chr1:119290772-119290773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12141000	chr1:119290785-119290786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558950052	chr1:119290840-119290841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548771176	chr1:119290883-119290884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577506466	chr1:119290960-119290961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61839572	chr1:119290979-119290980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556744336	chr1:119291005-119291006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184268754	chr1:119291021-119291022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553939612	chr1:119291046-119291047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187152961	chr1:119291049-119291050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146670301	chr1:119291050-119291051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191652357	chr1:119291080-119291081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183801248	chr1:119291167-119291168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140252800	chr1:119291170-119291171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6682454	chr1:119291172-119291173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79140708	chr1:119291237-119291238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564540990	chr1:119291241-119291242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541992004	chr1:119291253-119291254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541137752	chr1:119291262-119291263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55888946	chr1:119291337-119291338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559155704	chr1:119291362-119291363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1570816	chr1:119291382-119291383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119282600-119292600	Weak transcription	Psoas Muscle	Psoas

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