Variant report

Variant	esv3409453
Chromosome Location	chr2:187038157-187040355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551900402	chr2:187038166-187038167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559531655	chr2:187038211-187038212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139755216	chr2:187038228-187038229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79950759	chr2:187038243-187038244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145705740	chr2:187038245-187038246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148942028	chr2:187038262-187038263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188141043	chr2:187038275-187038276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180677808	chr2:187038290-187038291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553675148	chr2:187038324-187038325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558327541	chr2:187038413-187038414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577098051	chr2:187038417-187038418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545202504	chr2:187038520-187038521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534849094	chr2:187038528-187038529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143793330	chr2:187038597-187038598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574642733	chr2:187038629-187038630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111663178	chr2:187038675-187038676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541768630	chr2:187038688-187038689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562898398	chr2:187038711-187038712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574940404	chr2:187038770-187038771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545484131	chr2:187038782-187038783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34749517	chr2:187038813-187038814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370518520	chr2:187038895-187038896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528638686	chr2:187038909-187038910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555925169	chr2:187038979-187038980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184019360	chr2:187039005-187039006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188413762	chr2:187039007-187039008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181812070	chr2:187039011-187039012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28469797	chr2:187039019-187039020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28622393	chr2:187039027-187039028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549134492	chr2:187039045-187039046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145121235	chr2:187039069-187039070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62197160	chr2:187039071-187039072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62197161	chr2:187039075-187039076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28459699	chr2:187039077-187039078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74420657	chr2:187039079-187039080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554331907	chr2:187039091-187039092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28690690	chr2:187039113-187039114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58708732	chr2:187039115-187039116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199909148	chr2:187039117-187039118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547263862	chr2:187039139-187039140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182369787	chr2:187039255-187039256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185506953	chr2:187039260-187039261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113261830	chr2:187039274-187039275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529547397	chr2:187039281-187039282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34669814	chr2:187039288-187039289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569268635	chr2:187039337-187039338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113237485	chr2:187039385-187039386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374262997	chr2:187039386-187039387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375540197	chr2:187039389-187039390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34902875	chr2:187039390-187039391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187025000-187049800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:187029400-187044400	Weak transcription	Aorta	Aorta

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