Variant report

Variant	esv3337851
Chromosome Location	chr2:77433894-77435142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553682034	chr2:77433995-77433996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186691587	chr2:77434007-77434008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191570496	chr2:77434069-77434070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55639647	chr2:77434086-77434087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183029737	chr2:77434166-77434167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573871565	chr2:77434187-77434188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374091081	chr2:77434246-77434247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147450388	chr2:77434268-77434269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148726194	chr2:77434269-77434270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544344422	chr2:77434270-77434271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35745580	chr2:77434290-77434291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562629530	chr2:77434319-77434320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10677955	chr2:77434355-77434356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34130849	chr2:77434356-77434357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533211498	chr2:77434357-77434358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397793652	chr2:77434367-77434368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545096429	chr2:77434368-77434369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544716800	chr2:77434421-77434422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556667485	chr2:77434425-77434426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199733072	chr2:77434472-77434473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200933978	chr2:77434473-77434474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375773430	chr2:77434475-77434476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549493405	chr2:77434476-77434477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148348392	chr2:77434477-77434478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370230729	chr2:77434498-77434499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59335400	chr2:77434499-77434500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1659693	chr2:77434500-77434501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs66858623	chr2:77434509-77434510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549239835	chr2:77434527-77434528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567514910	chr2:77434595-77434596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531525737	chr2:77434649-77434650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549963501	chr2:77434650-77434651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112503493	chr2:77434693-77434694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141229682	chr2:77434765-77434766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553502344	chr2:77434820-77434821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147367975	chr2:77434824-77434825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575222687	chr2:77434857-77434858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56927658	chr2:77434872-77434873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565654511	chr2:77434882-77434883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368074321	chr2:77434934-77434935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542552862	chr2:77434938-77434939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556019609	chr2:77435041-77435042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13419764	chr2:77435082-77435083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561276150	chr2:77435092-77435093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200500220	chr2:77435096-77435097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	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
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77427600-77435800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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