Variant report

Variant	esv275348
Chromosome Location	chr2:50501395-50514830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 600 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576716045	chr2:50501403-50501404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146328692	chr2:50501447-50501448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559107711	chr2:50501521-50501522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529806386	chr2:50501524-50501525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542029570	chr2:50501536-50501537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561179546	chr2:50501540-50501541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188789513	chr2:50501569-50501570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552123375	chr2:50501586-50501587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386645970	chr2:50501635-50501636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181206324	chr2:50501669-50501670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571663058	chr2:50501701-50501702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532835418	chr2:50501713-50501714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186167661	chr2:50501720-50501721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575370570	chr2:50501721-50501722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536811162	chr2:50501736-50501737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28375370	chr2:50501740-50501741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569609641	chr2:50501773-50501774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537189195	chr2:50501779-50501780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558263500	chr2:50501789-50501790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576465292	chr2:50501844-50501845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564255247	chr2:50501869-50501870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540643331	chr2:50501907-50501908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577958946	chr2:50501921-50501922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144311072	chr2:50501922-50501923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75860525	chr2:50501931-50501932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373448169	chr2:50501972-50501973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540675699	chr2:50502001-50502002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541622191	chr2:50502024-50502025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139721152	chr2:50502058-50502059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576458079	chr2:50502106-50502107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543926574	chr2:50502141-50502142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370526444	chr2:50502142-50502143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75759012	chr2:50502173-50502174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77632746	chr2:50502212-50502213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190140417	chr2:50502239-50502240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560038618	chr2:50502263-50502264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530432079	chr2:50502267-50502268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548487848	chr2:50502269-50502270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371280992	chr2:50502278-50502279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74854732	chr2:50502299-50502300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536723907	chr2:50502344-50502345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10186205	chr2:50502363-50502364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182148155	chr2:50502405-50502406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552558747	chr2:50502457-50502458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369487350	chr2:50502472-50502473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141932405	chr2:50502481-50502482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535791559	chr2:50502511-50502512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368430237	chr2:50502604-50502605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575432512	chr2:50502607-50502608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563078155	chr2:50502639-50502640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20531469	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50496400-50519000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:50514800-50515200	Enhancers	Pancreatic Islets	Pancreatic Islet

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