Variant report

Variant	nsv962045
Chromosome Location	chr2:189558969-189572331
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	chr2:189560390..189562782-chr2:189566828..189569265,2	K562	blood:
2	chr2:189560390..189562782-chr2:189566828..189569265,2	K562	blood:

Extended variants
information (count: 379 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11676859	chr2:189558987-189558988	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190072072	chr2:189559006-189559007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529656165	chr2:189559008-189559009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559812091	chr2:189559027-189559028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551195606	chr2:189559028-189559029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569380151	chr2:189559047-189559048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539504097	chr2:189559065-189559066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557584233	chr2:189559088-189559089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566416255	chr2:189559118-189559119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533552101	chr2:189559129-189559130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181214288	chr2:189559135-189559136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573593559	chr2:189559171-189559172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114789159	chr2:189559191-189559192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184911654	chr2:189559208-189559209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577774753	chr2:189559212-189559213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188238331	chr2:189559243-189559244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78862202	chr2:189559360-189559361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564429055	chr2:189559367-189559368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs698555	chr2:189559372-189559373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540623322	chr2:189559378-189559379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551686915	chr2:189559398-189559399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs698556	chr2:189559401-189559402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140519067	chr2:189559411-189559412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs698557	chr2:189559422-189559423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369809447	chr2:189559431-189559432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533384215	chr2:189559444-189559445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74423019	chr2:189559492-189559493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566435663	chr2:189559551-189559552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533686201	chr2:189559559-189559560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554919982	chr2:189559560-189559561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549779962	chr2:189559690-189559691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376608448	chr2:189559704-189559705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566955919	chr2:189559709-189559710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537711865	chr2:189559713-189559714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113531630	chr2:189559745-189559746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556203132	chr2:189559755-189559756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372844258	chr2:189559759-189559760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544887516	chr2:189559765-189559766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528462258	chr2:189559766-189559767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181057731	chr2:189559773-189559774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573373911	chr2:189559804-189559805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568032822	chr2:189559859-189559860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540761066	chr2:189559870-189559871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562048962	chr2:189559922-189559923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185315528	chr2:189559944-189559945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190865602	chr2:189559982-189559983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75297714	chr2:189560036-189560037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150008237	chr2:189560139-189560140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs80163900	chr2:189560212-189560213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560341156	chr2:189560238-189560239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189555400-189560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189557000-189559000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:189557200-189559000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:189558400-189560600	Weak transcription	HMEC	breast
5	chr2:189558800-189560400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:189559600-189560400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:189559600-189560800	Enhancers	Dnd41	blood
8	chr2:189560200-189561400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:189560200-189561400	Enhancers	HSMM	muscle
10	chr2:189560200-189561400	Enhancers	Osteobl	bone
11	chr2:189560400-189560800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:189560400-189560800	Enhancers	NH-A	brain
13	chr2:189560400-189561200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:189560400-189561200	Enhancers	NHDF-Ad	bronchial
15	chr2:189560400-189561400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:189560400-189561400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:189560400-189561400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:189560400-189561400	Enhancers	NHLF	lung
19	chr2:189560400-189561800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:189560600-189561000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:189560600-189561000	Enhancers	HMEC	breast
22	chr2:189560600-189561600	Enhancers	Primary T cells from cord blood	blood
23	chr2:189560600-189561800	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:189560600-189562000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:189560800-189561200	Flanking Active TSS	Dnd41	blood
26	chr2:189560800-189561200	Flanking Active TSS	NH-A	brain
27	chr2:189560800-189561600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:189561200-189561800	Enhancers	NH-A	brain
29	chr2:189561200-189562400	Enhancers	Dnd41	blood
30	chr2:189561200-189569400	Weak transcription	NHDF-Ad	bronchial
31	chr2:189561600-189562600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:189561800-189566400	Weak transcription	NH-A	brain
33	chr2:189562400-189566800	Weak transcription	Dnd41	blood
34	chr2:189562800-189563000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:189566400-189567000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:189566400-189567000	Enhancers	NH-A	brain
37	chr2:189566600-189567200	Enhancers	HUVEC	blood vessel
38	chr2:189566800-189567200	Enhancers	Dnd41	blood
39	chr2:189567000-189570200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:189569400-189570400	Enhancers	NHDF-Ad	bronchial
41	chr2:189570200-189570600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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