Variant report

Variant	esv1010652
Chromosome Location	chr2:182062142-182065110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 51 )

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	rs180944451	chr2:182062242-182062243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559921670	chr2:182062255-182062256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185004170	chr2:182062267-182062268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4667135	chr2:182062281-182062282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4666717	chr2:182062284-182062285	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531490365	chr2:182062287-182062288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548415976	chr2:182062292-182062293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568329033	chr2:182062308-182062309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4233792	chr2:182062313-182062314	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553314603	chr2:182062316-182062317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566790532	chr2:182062374-182062375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539116377	chr2:182062473-182062474	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs558735405	chr2:182062479-182062480	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs575342639	chr2:182062535-182062536	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569688419	chr2:182062560-182062561	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs191034101	chr2:182062580-182062581	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs145922917	chr2:182062612-182062613	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376090251	chr2:182062621-182062622	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554766366	chr2:182062623-182062624	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs538366056	chr2:182062650-182062651	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs12615998	chr2:182062794-182062795	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540604420	chr2:182062827-182062828	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs59181568	chr2:182062853-182062854	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12616042	chr2:182062879-182062880	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545789776	chr2:182062887-182062888	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs562530841	chr2:182062893-182062894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534639324	chr2:182062901-182062902	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs531451700	chr2:182062983-182062984	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs548381187	chr2:182063038-182063039	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs561896103	chr2:182063041-182063042	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs181852059	chr2:182063042-182063043	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs139823511	chr2:182063054-182063055	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570728109	chr2:182063055-182063056	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs538615240	chr2:182063060-182063061	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552555699	chr2:182063079-182063080	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs568980277	chr2:182063125-182063126	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs186058591	chr2:182063167-182063168	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554727920	chr2:182063173-182063174	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs143256246	chr2:182063265-182063266	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs370414843	chr2:182063291-182063292	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs191595228	chr2:182063372-182063373	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs574009833	chr2:182063444-182063445	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4444479	chr2:182063448-182063449	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs577478435	chr2:182063457-182063458	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34512759	chr2:182063531-182063532	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545449587	chr2:182063562-182063563	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7599846	chr2:182063698-182063699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536262384	chr2:182063701-182063702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374315646	chr2:182063777-182063778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541984927	chr2:182063785-182063786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	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
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182050800-182063400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:182056600-182068000	Weak transcription	HSMMtube	muscle
3	chr2:182059600-182062400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:182059800-182064400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:182060000-182062400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:182060000-182064400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:182060200-182064800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:182060400-182064000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:182061000-182063200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:182061000-182064000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr2:182061000-182064800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:182061000-182065800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:182061200-182064400	Enhancers	Primary T cells from cord blood	blood
14	chr2:182061400-182062400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:182061400-182063800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:182061800-182064000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:182061800-182064000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:182062000-182063400	Enhancers	Dnd41	blood
19	chr2:182062000-182063800	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:182062400-182062600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr2:182062400-182063000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:182062400-182063600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:182062400-182063600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr2:182062600-182063000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:182063000-182063200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:182063000-182063200	Enhancers	HSMM	muscle
27	chr2:182063000-182063600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr2:182063200-182063600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr2:182063200-182067000	Weak transcription	HSMM	muscle
30	chr2:182063400-182064000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:182063400-182064800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr2:182063400-182068800	Weak transcription	Dnd41	blood
33	chr2:182063600-182064200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:182063600-182065000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr2:182063600-182065800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:182064000-182068200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:182064200-182064600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:182064400-182064800	Genic enhancers	Primary T cells from cord blood	blood
39	chr2:182064600-182064800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:182064600-182064800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr2:182064600-182064800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:182064600-182064800	Enhancers	NHDF-Ad	bronchial
43	chr2:182064800-182066400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:182064800-182066800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:182064800-182066800	Weak transcription	NHDF-Ad	bronchial
46	chr2:182064800-182067000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:182064800-182068200	Weak transcription	Primary T cells from cord blood	blood
48	chr2:182064800-182072800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:182065000-182065600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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