Variant report

Variant	esv3460933
Chromosome Location	chr2:179879836-179880589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374933890	chr2:179879837-179879838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59051988	chr2:179879843-179879844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368327336	chr2:179879846-179879847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60543279	chr2:179879849-179879850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61222905	chr2:179879860-179879861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56105301	chr2:179879870-179879871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58621012	chr2:179879877-179879878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184215935	chr2:179879880-179879881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57529531	chr2:179879888-179879889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55792025	chr2:179879899-179879900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60792887	chr2:179879907-179879908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56371643	chr2:179879924-179879925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370253992	chr2:179879936-179879937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200261773	chr2:179879948-179879949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570070168	chr2:179879950-179879951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202150994	chr2:179879953-179879954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372532079	chr2:179879954-179879955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371129270	chr2:179879957-179879958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376112999	chr2:179879958-179879959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376915970	chr2:179879959-179879960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368647878	chr2:179879966-179879967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372392322	chr2:179879967-179879968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375633099	chr2:179879968-179879969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367917719	chr2:179879970-179879971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551230034	chr2:179879974-179879975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188577352	chr2:179879975-179879976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571133111	chr2:179879978-179879979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200378378	chr2:179879979-179879980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563454258	chr2:179879981-179879982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201341925	chr2:179879985-179879986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57926916	chr2:179879991-179879992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375214617	chr2:179879992-179879993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199555096	chr2:179879993-179879994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532082547	chr2:179879995-179879996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397938167	chr2:179879999-179880000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551891394	chr2:179880005-179880006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200664221	chr2:179880009-179880010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191872863	chr2:179880011-179880012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202002653	chr2:179880012-179880013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376208411	chr2:179880013-179880014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61464252	chr2:179880025-179880026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368051425	chr2:179880028-179880029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142104513	chr2:179880037-179880038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183957511	chr2:179880065-179880066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189314222	chr2:179880081-179880082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143266834	chr2:179880085-179880086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62647556	chr2:179880087-179880088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200905397	chr2:179880100-179880101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116356743	chr2:179880103-179880104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62647557	chr2:179880106-179880107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179864000-179885000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:179871000-179882400	Weak transcription	Thymus	Thymus
3	chr2:179879800-179881800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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