Variant report

Variant	nsv529037
Chromosome Location	chr2:49420410-49429109
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	chr2:49425509..49426338-chr3:115937869..115938784,2	MCF-7	breast:

Extended variants
information (count: 387 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6720857	chr2:49420410-49420411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186853047	chr2:49420430-49420431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34501915	chr2:49420463-49420464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375843386	chr2:49420497-49420498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190258226	chr2:49420499-49420500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568544624	chr2:49420558-49420559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547886983	chr2:49420565-49420566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368529390	chr2:49420568-49420569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569946436	chr2:49420597-49420598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549013396	chr2:49420621-49420622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567230699	chr2:49420623-49420624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532035194	chr2:49420633-49420634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182867877	chr2:49420757-49420758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571847989	chr2:49420772-49420773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538840526	chr2:49420780-49420781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146383697	chr2:49420781-49420782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565853473	chr2:49420791-49420792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537677856	chr2:49420806-49420807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372628344	chr2:49420828-49420829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536307947	chr2:49420844-49420845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201518763	chr2:49420878-49420879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79246365	chr2:49420885-49420886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139761806	chr2:49420915-49420916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149688545	chr2:49420933-49420934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375885892	chr2:49420936-49420937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556170159	chr2:49420957-49420958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193064811	chr2:49420975-49420976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544899028	chr2:49420993-49420994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560353876	chr2:49421006-49421007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572179919	chr2:49421016-49421017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542698112	chr2:49421025-49421026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35924857	chr2:49421043-49421044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560912003	chr2:49421072-49421073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143112514	chr2:49421094-49421095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4564810	chr2:49421110-49421111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146196093	chr2:49421132-49421133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79488612	chr2:49421141-49421142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185561905	chr2:49421157-49421158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188872695	chr2:49421183-49421184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148426209	chr2:49421193-49421194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371470387	chr2:49421228-49421229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548267693	chr2:49421238-49421239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558587612	chr2:49421343-49421344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570066663	chr2:49421344-49421345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537031676	chr2:49421399-49421400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150978664	chr2:49421452-49421453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577874337	chr2:49421455-49421456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538893292	chr2:49421477-49421478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572120706	chr2:49421496-49421497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12713042	chr2:49421571-49421572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49409800-49437200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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