Variant report

Variant	nsv553871
Chromosome Location	chr11:25581337-25592935
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: 424 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16914139	chr11:25581337-25581338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527532220	chr11:25581338-25581339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542863031	chr11:25581351-25581352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75469998	chr11:25581391-25581392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531705544	chr11:25581393-25581394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369609460	chr11:25581407-25581408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377209733	chr11:25581421-25581422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147107360	chr11:25581430-25581431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79080071	chr11:25581440-25581441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186442551	chr11:25581456-25581457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138299994	chr11:25581470-25581471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12786560	chr11:25581489-25581490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75856790	chr11:25581569-25581570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75867874	chr11:25581606-25581607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576116215	chr11:25581617-25581618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190854034	chr11:25581620-25581621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16914141	chr11:25581711-25581712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533764468	chr11:25581729-25581730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572586396	chr11:25581733-25581734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79541704	chr11:25581791-25581792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528976902	chr11:25581829-25581830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544692198	chr11:25581838-25581839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181630954	chr11:25581839-25581840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572157813	chr11:25581851-25581852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542476605	chr11:25581855-25581856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185757485	chr11:25581863-25581864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191249242	chr11:25581875-25581876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543770915	chr11:25581922-25581923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565278854	chr11:25581928-25581929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78075273	chr11:25581936-25581937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79713379	chr11:25581958-25581959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533704275	chr11:25581989-25581990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559596891	chr11:25582016-25582017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529694292	chr11:25582055-25582056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149431636	chr11:25582068-25582069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369864233	chr11:25582069-25582070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552083248	chr11:25582192-25582193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7933013	chr11:25582203-25582204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570256785	chr11:25582231-25582232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183115201	chr11:25582288-25582289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538904831	chr11:25582319-25582320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10767405	chr11:25582331-25582332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs367692176	chr11:25582364-25582365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575229221	chr11:25582372-25582373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570867515	chr11:25582378-25582379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538248991	chr11:25582464-25582465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570347107	chr11:25582465-25582466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187610183	chr11:25582481-25582482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191223474	chr11:25582492-25582493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536382491	chr11:25582515-25582516	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:25 , 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
9	chr11:25586400-25591200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:25586800-25587000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:25586800-25589600	Enhancers	HMEC	breast
12	chr11:25587000-25587400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:25587400-25589000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:25587600-25588600	Enhancers	Ovary	ovary
15	chr11:25587600-25589000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:25587600-25589400	Enhancers	Dnd41	blood
17	chr11:25587600-25589400	Enhancers	Hela-S3	cervix
18	chr11:25587800-25589000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:25587800-25589200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:25587800-25589200	Enhancers	NHEK	skin
21	chr11:25587800-25590400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:25590400-25598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:25591200-25592400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:25592400-25592800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:25592800-25599200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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