Variant report

Variant	nsv975207
Chromosome Location	chr11:83501156-83502156
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	chr11:83004104..83004658-chr11:83501354..83501914,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187690758	chr11:83501164-83501165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533837515	chr11:83501173-83501174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549119707	chr11:83501175-83501176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567103571	chr11:83501221-83501222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565715369	chr11:83501246-83501247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115121892	chr11:83501268-83501269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555933318	chr11:83501292-83501293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs68127610	chr11:83501298-83501299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143241423	chr11:83501314-83501315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112798283	chr11:83501327-83501328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553519671	chr11:83501353-83501354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554801449	chr11:83501354-83501355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554690556	chr11:83501434-83501435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574088691	chr11:83501465-83501466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544588957	chr11:83501474-83501475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138786014	chr11:83501485-83501486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192600624	chr11:83501520-83501521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552119371	chr11:83501547-83501548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78771335	chr11:83501616-83501617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184226277	chr11:83501656-83501657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548761445	chr11:83501674-83501675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190015606	chr11:83501687-83501688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537572890	chr11:83501716-83501717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139859470	chr11:83501746-83501747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536269719	chr11:83501753-83501754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184732595	chr11:83501799-83501800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538520885	chr11:83501801-83501802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553657058	chr11:83501825-83501826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565500094	chr11:83501833-83501834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189995986	chr11:83501840-83501841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554512725	chr11:83501903-83501904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114308687	chr11:83501913-83501914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113392378	chr11:83501923-83501924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558873037	chr11:83501961-83501962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7130838	chr11:83501966-83501967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs578086168	chr11:83501976-83501977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180801405	chr11:83501989-83501990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560774647	chr11:83502001-83502002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375005611	chr11:83502015-83502016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528040597	chr11:83502059-83502060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7103592	chr11:83502064-83502065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185421805	chr11:83502075-83502076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138441000	chr11:83502095-83502096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549635151	chr11:83502107-83502108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369875190	chr11:83502112-83502113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570865719	chr11:83502122-83502123	Weak transcription	n/a	n/a	Overlapped CNVs	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83495400-83503200	Weak transcription	Liver	Liver
2	chr11:83498200-83506600	Weak transcription	Brain Hippocampus Middle	brain

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