Variant report

Variant	esv3366689
Chromosome Location	chr2:185311457-185314205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:185299545..185302161-chr2:185314147..185317606,4	K562	blood:
2	chr2:185313038..185315392-chr2:185318156..185320285,2	K562	blood:
3	chr2:185299549..185301224-chr2:185314147..185316677,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558627876	chr2:185311506-185311507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13409524	chr2:185311535-185311536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535055883	chr2:185311563-185311564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531568042	chr2:185311618-185311619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541983249	chr2:185311666-185311667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558788186	chr2:185311680-185311681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553422001	chr2:185311709-185311710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574959224	chr2:185311751-185311752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367658979	chr2:185311752-185311753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191847195	chr2:185311757-185311758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575789625	chr2:185311782-185311783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181889008	chr2:185311804-185311805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564652390	chr2:185311807-185311808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35111125	chr2:185311875-185311876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370314411	chr2:185311880-185311881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531965361	chr2:185311892-185311893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540589424	chr2:185311934-185311935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113035789	chr2:185311961-185311962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563753875	chr2:185311988-185311989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116627671	chr2:185312057-185312058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569820862	chr2:185312096-185312097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185433540	chr2:185312132-185312133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189844123	chr2:185312151-185312152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570728515	chr2:185312169-185312170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529337061	chr2:185312202-185312203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115260997	chr2:185312221-185312222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145165876	chr2:185312226-185312227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371889067	chr2:185312227-185312228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182822626	chr2:185312335-185312336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111924400	chr2:185312398-185312399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575771280	chr2:185312401-185312402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186183652	chr2:185312412-185312413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557944225	chr2:185312473-185312474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573171826	chr2:185312491-185312492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35079660	chr2:185312557-185312558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111955967	chr2:185312560-185312561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558879285	chr2:185312608-185312609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529679685	chr2:185312693-185312694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77240201	chr2:185312700-185312701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191863516	chr2:185312785-185312786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116943220	chr2:185312794-185312795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367730485	chr2:185312856-185312857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367812642	chr2:185312857-185312858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200943810	chr2:185312884-185312885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183311868	chr2:185312901-185312902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528465848	chr2:185312910-185312911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530962705	chr2:185312915-185312916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7421902	chr2:185312923-185312924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562028256	chr2:185312930-185312931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528354186	chr2:185312939-185312940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Psychiatric disorder	20548289	CNVD
Psychosis	20048749	CNVD
Rectal cancer	20877625	CNVD
Schizophrenia	20548289	CNVD
anxiety disorder	20548289	CNVD
Autism	20548289	CNVD
Bipolar disorder	20548289	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185310400-185315800	Weak transcription	GM12878-XiMat	blood

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