Variant report

Variant	nsv527180
Chromosome Location	chr2:184556456-184581876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536514326	chr2:184561244-184561245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182654201	chr2:184561265-184561266	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs572677341	chr2:184561303-184561304	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs10194132	chr2:184561304-184561305	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558217896	chr2:184561312-184561313	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77772347	chr2:184561323-184561324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs376305273	chr2:184561327-184561328	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77309675	chr2:184561357-184561358	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs571062686	chr2:184561426-184561427	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs142630319	chr2:184561433-184561434	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76814715	chr2:184561439-184561440	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10206843	chr2:184561556-184561557	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34298564	chr2:184561564-184561565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs551964278	chr2:184561615-184561616	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs74945731	chr2:184561617-184561618	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531009163	chr2:184561618-184561619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146943449	chr2:184561665-184561666	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201575288	chr2:184561667-184561668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs527580053	chr2:184561711-184561712	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs185896421	chr2:184561716-184561717	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs567882999	chr2:184561737-184561738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546484409	chr2:184561824-184561825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566468164	chr2:184561841-184561842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538553451	chr2:184561851-184561852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558283294	chr2:184561864-184561865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567066770	chr2:184561898-184561899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553476170	chr2:184561945-184561946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537911119	chr2:184561948-184561949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190267875	chr2:184562015-184562016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16824941	chr2:184562043-184562044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182887042	chr2:184562088-184562089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1377756	chr2:184562126-184562127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574372952	chr2:184562138-184562139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188725971	chr2:184562167-184562168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560199701	chr2:184562252-184562253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137883696	chr2:184562264-184562265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143560155	chr2:184562344-184562345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193047073	chr2:184562348-184562349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184180551	chr2:184562376-184562377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76767883	chr2:184562384-184562385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548810954	chr2:184562404-184562405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148212595	chr2:184562538-184562539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530026359	chr2:184562586-184562587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187561884	chr2:184562637-184562638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566529105	chr2:184562687-184562688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200545584	chr2:184562714-184562715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538516458	chr2:184562725-184562726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191464397	chr2:184562730-184562731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569017235	chr2:184562741-184562742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577808012	chr2:184562761-184562762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
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
low-grade B-cell lymphoma tumor	18367492	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184561200-184561800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:184561800-184563200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:184579400-184579800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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