Variant report

Variant	esv3403063
Chromosome Location	chr2:35639198-35641146
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	chr2:35636612..35639504-chr2:35640533..35642866,2	MCF-7	breast:
2	chr2:35636612..35639504-chr2:35640533..35642866,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189469611	chr2:35640449-35640450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567051514	chr2:35640451-35640452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs66955879	chr2:35640473-35640474	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529020162	chr2:35640480-35640481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556760458	chr2:35640495-35640496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181431405	chr2:35640518-35640519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185958523	chr2:35640525-35640526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191253268	chr2:35640581-35640582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182944339	chr2:35640606-35640607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555517188	chr2:35640622-35640623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553141022	chr2:35640651-35640652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2714562	chr2:35640692-35640693	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs578119009	chr2:35640715-35640716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10192925	chr2:35640759-35640760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554191861	chr2:35640761-35640762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561743896	chr2:35640788-35640789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530556380	chr2:35640791-35640792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572742333	chr2:35640806-35640807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78075089	chr2:35640830-35640831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563899759	chr2:35640831-35640832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532845093	chr2:35640835-35640836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552556107	chr2:35640885-35640886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541364996	chr2:35640908-35640909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs55833930	chr2:35640920-35640921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2714563	chr2:35640922-35640923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373414987	chr2:35640949-35640950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186737540	chr2:35640977-35640978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550954463	chr2:35640981-35640982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570714724	chr2:35641003-35641004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190683920	chr2:35641010-35641011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115163502	chr2:35641011-35641012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148217479	chr2:35641013-35641014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60179900	chr2:35641016-35641017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543543278	chr2:35641021-35641022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555567229	chr2:35641051-35641052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182417148	chr2:35641067-35641068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13028120	chr2:35641094-35641095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187754085	chr2:35641146-35641147	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35640400-35641200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:35640600-35641200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:35640600-35641200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:35640800-35641600	Enhancers	Brain Substantia Nigra	brain
5	chr2:35641000-35642600	Enhancers	Fetal Stomach	stomach

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