Variant report

Variant	nsv897124
Chromosome Location	chr11:25230780-25364232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:25236770..25239530-chr11:25241817..25244758,2	K562	blood:
2	chr11:25236770..25239530-chr11:25241817..25244758,2	K562	blood:
3	chr11:25259471..25260471-chr3:74708453..74709453,2	MCF-7	breast:
4	chr11:25259489..25259989-chr8:43095397..43095932,2	MCF-7	breast:
5	chr11:25258471..25259991-chr8:43093202..43096075,2	MCF-7	breast:
6	chr11:25258490..25261471-chr8:43091396..43094700,3	MCF-7	breast:
7	chr11:25259471..25259991-chr8:43092431..43093431,2	MCF-7	breast:

Extended variants
information (count: 759 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:759 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530969257	chr11:25233008-25233009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550992721	chr11:25233022-25233023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567569949	chr11:25233052-25233053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139625592	chr11:25233060-25233061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183729692	chr11:25233073-25233074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372305970	chr11:25233114-25233115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566630161	chr11:25233119-25233120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78345078	chr11:25233120-25233121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371962956	chr11:25233176-25233177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558263007	chr11:25233181-25233182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568599982	chr11:25233221-25233222	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35886951	chr11:25233263-25233264	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189273516	chr11:25233298-25233299	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs534836755	chr11:25233303-25233304	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs574012122	chr11:25233309-25233310	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553085563	chr11:25233354-25233355	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs543281107	chr11:25233385-25233386	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553371433	chr11:25233416-25233417	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs117154475	chr11:25233441-25233442	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs545264046	chr11:25233462-25233463	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs565427051	chr11:25233529-25233530	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs116170563	chr11:25233533-25233534	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs544626469	chr11:25233585-25233586	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561232214	chr11:25233589-25233590	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs369754082	chr11:25233616-25233617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577837364	chr11:25233666-25233667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538995802	chr11:25233672-25233673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182019336	chr11:25233689-25233690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532375525	chr11:25233703-25233704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551947624	chr11:25233712-25233713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568611691	chr11:25233736-25233737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537504820	chr11:25233757-25233758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554167899	chr11:25233763-25233764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372602318	chr11:25233778-25233779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568078214	chr11:25233781-25233782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533541518	chr11:25233788-25233789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185160496	chr11:25233833-25233834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573457285	chr11:25233838-25233839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115914274	chr11:25233856-25233857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377051049	chr11:25233860-25233861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559154057	chr11:25233890-25233891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557057554	chr11:25233915-25233916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575628382	chr11:25233925-25233926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190057346	chr11:25233955-25233956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544689512	chr11:25233957-25233958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182943038	chr11:25239225-25239226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117590137	chr11:25239258-25239259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375087893	chr11:25239309-25239310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570942272	chr11:25239314-25239315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12795872	chr11:25239357-25239358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25233000-25233800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:25233000-25234000	Enhancers	Hela-S3	cervix
3	chr11:25233000-25234000	Enhancers	NHEK	skin
4	chr11:25233200-25233600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:25233200-25233600	Active TSS	Gastric	stomach
6	chr11:25233200-25233600	Enhancers	HMEC	breast
7	chr11:25233200-25233800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:25233200-25233800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:25233200-25233800	Enhancers	Esophagus	oesophagus
10	chr11:25233400-25233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:25239200-25240600	Enhancers	Fetal Heart	heart
12	chr11:25252400-25252600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
13	chr11:25252600-25253600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:25264400-25265200	Enhancers	NHEK	skin
15	chr11:25264600-25265000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:25264800-25265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:25286600-25287000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:25286600-25287000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr11:25302400-25303000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:25312400-25314800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:25313600-25313800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:25313800-25322800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:25315000-25316400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:25321200-25321400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:25339400-25340000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:25339400-25340600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:25340000-25340400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:25340400-25340800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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