Variant report

Variant	nsv553870
Chromosome Location	chr11:25580367-25585180
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	chr11:25576575..25578534-chr11:25581809..25585257,3	K562	blood:

Extended variants
information (count: 156 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139386947	chr11:25581032-25581033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17242335	chr11:25581065-25581066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7120268	chr11:25581074-25581075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181168674	chr11:25581092-25581093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554393513	chr11:25581109-25581110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566172231	chr11:25581122-25581123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77268413	chr11:25581132-25581133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7120522	chr11:25581159-25581160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141875787	chr11:25581176-25581177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184402342	chr11:25581185-25581186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189291696	chr11:25581195-25581196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112577126	chr11:25581220-25581221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577303613	chr11:25581245-25581246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182134152	chr11:25581277-25581278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368990443	chr11:25581316-25581317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs16914139	chr11:25581337-25581338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527532220	chr11:25581338-25581339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542863031	chr11:25581351-25581352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75469998	chr11:25581391-25581392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531705544	chr11:25581393-25581394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369609460	chr11:25581407-25581408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377209733	chr11:25581421-25581422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147107360	chr11:25581430-25581431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79080071	chr11:25581440-25581441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186442551	chr11:25581456-25581457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138299994	chr11:25581470-25581471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12786560	chr11:25581489-25581490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75856790	chr11:25581569-25581570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75867874	chr11:25581606-25581607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576116215	chr11:25581617-25581618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190854034	chr11:25581620-25581621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs16914141	chr11:25581711-25581712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533764468	chr11:25581729-25581730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572586396	chr11:25581733-25581734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79541704	chr11:25581791-25581792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528976902	chr11:25581829-25581830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544692198	chr11:25581838-25581839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181630954	chr11:25581839-25581840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572157813	chr11:25581851-25581852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542476605	chr11:25581855-25581856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185757485	chr11:25581863-25581864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191249242	chr11:25581875-25581876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543770915	chr11:25581922-25581923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565278854	chr11:25581928-25581929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78075273	chr11:25581936-25581937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79713379	chr11:25581958-25581959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533704275	chr11:25581989-25581990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559596891	chr11:25582016-25582017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529694292	chr11:25582055-25582056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149431636	chr11:25582068-25582069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25581000-25581400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:25581000-25581800	Enhancers	NHEK	skin
3	chr11:25581400-25586400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:25581800-25587800	Weak transcription	NHEK	skin
5	chr11:25583600-25585000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:25584000-25584400	Enhancers	Fetal Heart	heart
7	chr11:25584200-25584600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:25585000-25586800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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