Variant report

Variant	esv3323025
Chromosome Location	chr2:78947494-78948842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185635164	chr2:78947498-78947499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531303567	chr2:78947515-78947516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551422732	chr2:78947549-78947550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115516016	chr2:78947558-78947559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140839117	chr2:78947581-78947582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372897653	chr2:78947585-78947586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144374135	chr2:78947588-78947589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151197901	chr2:78947597-78947598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190095874	chr2:78947643-78947644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373371521	chr2:78947648-78947649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570182752	chr2:78947721-78947722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538738414	chr2:78947765-78947766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71385231	chr2:78947823-78947824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374266800	chr2:78947824-78947825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140353777	chr2:78947838-78947839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11693043	chr2:78947840-78947841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34399313	chr2:78947842-78947843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs34696321	chr2:78947843-78947844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554846311	chr2:78947844-78947845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149956297	chr2:78947855-78947856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376376898	chr2:78947892-78947893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544041508	chr2:78947926-78947927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181563104	chr2:78947962-78947963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576119429	chr2:78947971-78947972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113894122	chr2:78948049-78948050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112855131	chr2:78948119-78948120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527284771	chr2:78948174-78948175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140782120	chr2:78948206-78948207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561274151	chr2:78948218-78948219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529945313	chr2:78948260-78948261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549979465	chr2:78948272-78948273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569737811	chr2:78948275-78948276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538414520	chr2:78948287-78948288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201222856	chr2:78948370-78948371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565790859	chr2:78948372-78948373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576897416	chr2:78948401-78948402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192032960	chr2:78948447-78948448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184160838	chr2:78948471-78948472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537327283	chr2:78948497-78948498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557597105	chr2:78948530-78948531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577386162	chr2:78948532-78948533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144618408	chr2:78948541-78948542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74533383	chr2:78948569-78948570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188707895	chr2:78948601-78948602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541077708	chr2:78948634-78948635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78660898	chr2:78948642-78948643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530038512	chr2:78948650-78948651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80230111	chr2:78948707-78948708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75916070	chr2:78948708-78948709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543370161	chr2:78948713-78948714	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78946800-78948600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:78948600-78948800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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