Variant report

Variant	nsv976528
Chromosome Location	chr11:84605646-84610480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 206 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6592211	chr11:84605673-84605674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566455150	chr11:84605682-84605683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193218689	chr11:84605697-84605698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555350686	chr11:84605741-84605742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573618607	chr11:84605747-84605748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79910418	chr11:84605752-84605753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17147761	chr11:84605753-84605754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543489415	chr11:84605764-84605765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539033369	chr11:84605806-84605807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7101454	chr11:84605829-84605830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12275261	chr11:84605890-84605891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112977167	chr11:84605895-84605896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386755724	chr11:84605939-84605940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371902021	chr11:84605940-84605941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375272188	chr11:84605941-84605942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77558092	chr11:84605942-84605943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61907729	chr11:84605943-84605944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183381899	chr11:84605967-84605968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187507531	chr11:84605992-84605993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529344646	chr11:84605995-84605996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61907730	chr11:84606012-84606013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192320900	chr11:84606013-84606014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562328775	chr11:84606026-84606027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533000289	chr11:84606048-84606049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184108746	chr11:84606139-84606140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566604280	chr11:84606144-84606145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12276815	chr11:84606174-84606175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548672461	chr11:84606186-84606187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12269779	chr11:84606216-84606217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12269784	chr11:84606229-84606230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556332678	chr11:84606269-84606270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201289603	chr11:84606280-84606281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539991315	chr11:84606315-84606316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189965378	chr11:84606321-84606322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573426661	chr11:84606387-84606388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540945559	chr11:84606389-84606390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202090333	chr11:84606430-84606431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11234229	chr11:84606435-84606436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573732721	chr11:84606453-84606454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544290981	chr11:84606475-84606476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34899555	chr11:84606483-84606484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139651328	chr11:84606495-84606496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72953459	chr11:84606550-84606551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192751606	chr11:84606587-84606588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370231988	chr11:84606618-84606619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544840920	chr11:84606690-84606691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540613961	chr11:84606693-84606694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11600059	chr11:84606702-84606703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376643718	chr11:84606721-84606722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530246022	chr11:84606787-84606788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84605400-84605800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:84605400-84605800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:84605800-84613600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:84609400-84613400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:84609800-84610000	Enhancers	NHLF	lung
6	chr11:84609800-84611200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:84610000-84611400	Enhancers	NHDF-Ad	bronchial
8	chr11:84610000-84613200	Weak transcription	NHLF	lung
9	chr11:84610400-84611000	Enhancers	NH-A	brain
10	chr11:84610400-84611400	Enhancers	Osteobl	bone

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