Variant report

Variant	esv18077
Chromosome Location	chr2:34921795-34924020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 156 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs150982007	chr2:34921797-34921798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189328573	chr2:34921799-34921800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527988087	chr2:34921800-34921801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555667325	chr2:34921807-34921808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13004134	chr2:34921812-34921813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537801045	chr2:34921813-34921814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555496516	chr2:34921818-34921819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117010435	chr2:34921838-34921839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373769807	chr2:34921850-34921851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150003131	chr2:34921853-34921854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146587034	chr2:34921864-34921865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573233162	chr2:34921874-34921875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542131018	chr2:34921879-34921880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562375112	chr2:34921890-34921891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4670395	chr2:34921899-34921900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145008282	chr2:34921914-34921915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564472047	chr2:34921928-34921929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191832240	chr2:34921934-34921935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372795317	chr2:34921941-34921942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138990117	chr2:34921978-34921979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546852123	chr2:34922013-34922014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566688974	chr2:34922029-34922030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538270706	chr2:34922041-34922042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115363077	chr2:34922066-34922067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376758391	chr2:34922070-34922071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549010478	chr2:34922079-34922080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112012521	chr2:34922080-34922081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533434172	chr2:34922099-34922100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551352312	chr2:34922108-34922109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148134505	chr2:34922133-34922134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539087253	chr2:34922141-34922142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553415262	chr2:34922155-34922156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183909560	chr2:34922161-34922162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189129488	chr2:34922166-34922167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141965075	chr2:34922167-34922168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181569430	chr2:34922178-34922179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372552231	chr2:34922181-34922182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573112208	chr2:34922192-34922193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186768870	chr2:34922203-34922204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150105565	chr2:34922211-34922212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62163864	chr2:34922224-34922225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190466942	chr2:34922232-34922233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138747049	chr2:34922390-34922391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562685203	chr2:34922395-34922396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182240691	chr2:34922409-34922410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551122519	chr2:34922476-34922477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570924837	chr2:34922498-34922499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533514470	chr2:34922499-34922500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186085996	chr2:34922514-34922515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567016115	chr2:34922521-34922522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34919600-34926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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