Variant report

Variant	nsv526794
Chromosome Location	chr2:10887075-10889788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10886654..10889049-chr2:10889498..10891329,2	MCF-7	breast:
2	chr2:10887364..10890234-chr2:10894383..10895991,2	K562	blood:
3	chr2:10886654..10889049-chr2:10889498..10891329,2	MCF-7	breast:
4	chr2:10879563..10881416-chr2:10888633..10890262,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10192975	chr2:10887075-10887076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575581519	chr2:10887123-10887124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370460640	chr2:10887132-10887133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568862410	chr2:10887146-10887147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536540692	chr2:10887147-10887148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373608357	chr2:10887165-10887166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554702192	chr2:10887188-10887189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373390141	chr2:10887226-10887227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573166882	chr2:10887248-10887249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184925459	chr2:10887278-10887279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190570908	chr2:10887312-10887313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372675758	chr2:10887318-10887319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180832316	chr2:10887326-10887327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114677744	chr2:10887509-10887510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563069731	chr2:10887510-10887511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575069744	chr2:10887512-10887513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542492404	chr2:10887563-10887564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560597034	chr2:10887582-10887583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538114495	chr2:10887651-10887652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28623106	chr2:10887667-10887668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546148216	chr2:10887683-10887684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564645503	chr2:10887709-10887710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368273099	chr2:10887784-10887785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117457635	chr2:10887787-10887788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145591907	chr2:10887789-10887790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200026890	chr2:10887828-10887829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397868902	chr2:10887838-10887839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148904841	chr2:10887856-10887857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145619252	chr2:10887953-10887954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548483563	chr2:10887998-10887999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186066670	chr2:10888046-10888047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371367362	chr2:10888080-10888081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566612690	chr2:10888096-10888097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534204947	chr2:10888123-10888124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558945911	chr2:10888131-10888132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146552600	chr2:10888180-10888181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191316191	chr2:10888285-10888286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181251443	chr2:10888347-10888348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116398887	chr2:10888420-10888421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115831299	chr2:10888421-10888422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542024363	chr2:10888482-10888483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569746970	chr2:10888560-10888561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375768140	chr2:10888570-10888571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13405456	chr2:10888571-10888572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7571129	chr2:10888696-10888697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs56778891	chr2:10888707-10888708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185714843	chr2:10888716-10888717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34028280	chr2:10888755-10888756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539890548	chr2:10888832-10888833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115493100	chr2:10888848-10888849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10881600-10892400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:10882200-10895400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:10883000-10899400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:10884400-10887600	Enhancers	Primary B cells from cord blood	blood
5	chr2:10886400-10888200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:10887000-10887400	Weak transcription	GM12878-XiMat	blood
7	chr2:10887400-10887800	Enhancers	GM12878-XiMat	blood
8	chr2:10888200-10888600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:10889600-10894200	Weak transcription	Right Atrium	heart

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