Variant report

Variant	nsv516859
Chromosome Location	chr11:83579907-83580633
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	chr11:83571091..83572760-chr11:83577479..83580150,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs877985	chr11:83579907-83579908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145155716	chr11:83579932-83579933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56837259	chr11:83579935-83579936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189171211	chr11:83579954-83579955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570838331	chr11:83579973-83579974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572701829	chr11:83580005-83580006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553643183	chr11:83580009-83580010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575061674	chr11:83580055-83580056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573339799	chr11:83580057-83580058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543785953	chr11:83580077-83580078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535629971	chr11:83580087-83580088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2374461	chr11:83580093-83580094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574984019	chr11:83580118-83580119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181032131	chr11:83580136-83580137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563879369	chr11:83580169-83580170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138907541	chr11:83580172-83580173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540122841	chr11:83580198-83580199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564604391	chr11:83580199-83580200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2374462	chr11:83580202-83580203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529233638	chr11:83580207-83580208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200884565	chr11:83580230-83580231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148987203	chr11:83580288-83580289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61900045	chr11:83580297-83580298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs199877498	chr11:83580303-83580304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76809954	chr11:83580306-83580307	Weak transcription	n/a	n/a	Overlapped CNVs	disease
26	rs552711127	chr11:83580320-83580321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560045046	chr11:83580347-83580348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570731342	chr11:83580447-83580448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528595923	chr11:83580453-83580454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534999615	chr11:83580463-83580464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373277379	chr11:83580464-83580465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568732559	chr11:83580514-83580515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143746310	chr11:83580541-83580542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557091017	chr11:83580568-83580569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs938536	chr11:83580576-83580577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs867033	chr11:83580633-83580634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83576000-83586400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:83577200-83584400	Weak transcription	Brain Angular Gyrus	brain
3	chr11:83577200-83584400	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:83577400-83584600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:83577400-83606800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:83577800-83584400	Weak transcription	Brain Anterior Caudate	brain
7	chr11:83578000-83606800	Weak transcription	Brain Substantia Nigra	brain

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