Variant report

Variant	esv3439215
Chromosome Location	chr2:185691707-185692905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:185692719..185694958-chr2:185715140..185717757,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149952946	chr2:185691709-185691710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559074667	chr2:185691740-185691741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574615811	chr2:185691804-185691805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145215757	chr2:185691821-185691822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149137337	chr2:185691833-185691834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530736401	chr2:185691893-185691894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545633216	chr2:185691912-185691913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189940607	chr2:185691991-185691992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528366568	chr2:185692057-185692058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537329068	chr2:185692065-185692066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7585984	chr2:185692222-185692223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6736418	chr2:185692224-185692225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191736254	chr2:185692275-185692276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529221666	chr2:185692281-185692282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550675313	chr2:185692303-185692304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568968020	chr2:185692423-185692424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143538872	chr2:185692427-185692428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375854228	chr2:185692446-185692447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549691312	chr2:185692447-185692448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76896966	chr2:185692476-185692477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9973668	chr2:185692497-185692498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535452574	chr2:185692512-185692513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534207868	chr2:185692523-185692524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556071490	chr2:185692581-185692582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79150074	chr2:185692602-185692603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140579500	chr2:185692606-185692607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561167976	chr2:185692622-185692623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184047720	chr2:185692691-185692692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573207288	chr2:185692709-185692710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75450802	chr2:185692712-185692713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539570145	chr2:185692734-185692735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374830332	chr2:185692742-185692743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528413548	chr2:185692747-185692748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540179546	chr2:185692753-185692754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200621243	chr2:185692758-185692759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531261372	chr2:185692772-185692773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372641914	chr2:185692782-185692783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6711666	chr2:185692799-185692800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561613500	chr2:185692829-185692830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189028212	chr2:185692869-185692870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185689600-185695400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:185692400-185693200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links