Variant report

Variant	nsv520103
Chromosome Location	chr11:84204505-84208616
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	chr11:84200515..84202625-chr11:84205406..84207106,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1430946	chr11:84204505-84204506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570977545	chr11:84204518-84204519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535097861	chr11:84204533-84204534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553436582	chr11:84204543-84204544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574765713	chr11:84204544-84204545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140454005	chr11:84204564-84204565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576154282	chr11:84204593-84204594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144155581	chr11:84204607-84204608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs55796920	chr11:84204609-84204610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546400057	chr11:84204616-84204617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs36088410	chr11:84204632-84204633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564319730	chr11:84204669-84204670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181814304	chr11:84204697-84204698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34109882	chr11:84204708-84204709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146502460	chr11:84204746-84204747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186373755	chr11:84204769-84204770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561394493	chr11:84204772-84204773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528888298	chr11:84204812-84204813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561462210	chr11:84204857-84204858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550269741	chr11:84204876-84204877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376339519	chr11:84204897-84204898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562813857	chr11:84204906-84204907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189518899	chr11:84204916-84204917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551628445	chr11:84204921-84204922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181375372	chr11:84204963-84204964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535163097	chr11:84205001-84205002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547111831	chr11:84205017-84205018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568414412	chr11:84205079-84205080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185267560	chr11:84205081-84205082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77580344	chr11:84205087-84205088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575922038	chr11:84205098-84205099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568402910	chr11:84205130-84205131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535731171	chr11:84205151-84205152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79143997	chr11:84205161-84205162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540494407	chr11:84205233-84205234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115390213	chr11:84205263-84205264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58339480	chr11:84205269-84205270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530257986	chr11:84205275-84205276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540382706	chr11:84205291-84205292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370279277	chr11:84205292-84205293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573618207	chr11:84205302-84205303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143114007	chr11:84205345-84205346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189872743	chr11:84205350-84205351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533289849	chr11:84205368-84205369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151072804	chr11:84205374-84205375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77908572	chr11:84205408-84205409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376049429	chr11:84205456-84205457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183211176	chr11:84205591-84205592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550822961	chr11:84205646-84205647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568562176	chr11:84205652-84205653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Autism	19246517	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84204000-84205800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:84204400-84204800	Enhancers	Osteobl	bone
3	chr11:84204800-84208600	Weak transcription	Osteobl	bone
4	chr11:84205800-84207200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:84206200-84206600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr11:84206600-84208400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:84207200-84210800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:84208400-84208800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:84208400-84209200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr11:84208600-84210200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:84208600-84210200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:84208600-84210200	Enhancers	Osteobl	bone

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