Variant report

Variant	esv3394087
Chromosome Location	chr2:34774698-34777146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571852278	chr2:34774726-34774727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559697992	chr2:34774766-34774767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184539511	chr2:34774767-34774768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142600829	chr2:34774782-34774783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75286035	chr2:34774792-34774793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80173539	chr2:34774823-34774824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530698792	chr2:34774867-34774868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550897028	chr2:34774877-34774878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180722725	chr2:34774925-34774926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76953527	chr2:34774946-34774947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186498691	chr2:34774952-34774953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374768512	chr2:34774962-34774963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55745713	chr2:34774990-34774991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189764872	chr2:34774991-34774992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181894811	chr2:34775014-34775015	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371850173	chr2:34775033-34775034	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375194353	chr2:34775040-34775041	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548632331	chr2:34775065-34775066	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568336609	chr2:34775089-34775090	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537198475	chr2:34775109-34775110	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557238431	chr2:34775111-34775112	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572437641	chr2:34775124-34775125	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577515866	chr2:34775134-34775135	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540106559	chr2:34775135-34775136	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553127966	chr2:34775139-34775140	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374012961	chr2:34775226-34775227	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368099275	chr2:34775253-34775254	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573158660	chr2:34775271-34775272	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541981360	chr2:34775292-34775293	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562118040	chr2:34775303-34775304	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186926489	chr2:34775315-34775316	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72790805	chr2:34775320-34775321	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564270040	chr2:34775333-34775334	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370164005	chr2:34775335-34775336	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376346626	chr2:34775336-34775337	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201207462	chr2:34775359-34775360	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202128337	chr2:34775361-34775362	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373606815	chr2:34775379-34775380	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10190683	chr2:34775394-34775395	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34774000-34775000	Enhancers	NHEK	skin
2	chr2:34774200-34775400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:34774200-34775400	Enhancers	HMEC	breast
4	chr2:34774400-34775000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:34775000-34775400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:34775000-34775400	Flanking Active TSS	NHEK	skin

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