Variant report

Variant	nsv976474
Chromosome Location	chr11:101364853-101369234
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	chr11:101367288..101368830-chr11:101394227..101396283,2	K562	blood:

Extended variants
information (count: 156 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568028189	chr11:101364873-101364874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538436724	chr11:101364874-101364875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540322618	chr11:101364992-101364993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80170900	chr11:101365010-101365011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4129254	chr11:101365032-101365033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146154971	chr11:101365034-101365035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553850722	chr11:101365096-101365097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190268968	chr11:101365105-101365106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138936493	chr11:101365122-101365123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4129253	chr11:101365157-101365158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4129255	chr11:101365203-101365204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573811034	chr11:101365253-101365254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543989152	chr11:101365259-101365260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182517876	chr11:101365281-101365282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560681342	chr11:101365320-101365321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535116253	chr11:101365383-101365384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115446998	chr11:101365400-101365401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374424107	chr11:101365450-101365451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141529159	chr11:101365464-101365465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150886377	chr11:101365471-101365472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377347765	chr11:101365492-101365493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546695140	chr11:101365597-101365598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186837494	chr11:101365598-101365599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568194515	chr11:101365640-101365641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531975124	chr11:101365673-101365674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553644754	chr11:101365681-101365682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10791477	chr11:101365702-101365703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139502749	chr11:101365725-101365726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556885379	chr11:101365726-101365727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10791478	chr11:101365732-101365733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368079354	chr11:101365752-101365753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192130016	chr11:101365831-101365832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540086583	chr11:101365838-101365839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs118187773	chr11:101365842-101365843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183296676	chr11:101365846-101365847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558210268	chr11:101365884-101365885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560734447	chr11:101365925-101365926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149283509	chr11:101365954-101365955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144436918	chr11:101365970-101365971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139465202	chr11:101365971-101365972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554308934	chr11:101365998-101365999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189138375	chr11:101366028-101366029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541371549	chr11:101366039-101366040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539903039	chr11:101366042-101366043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560192247	chr11:101366089-101366090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576803040	chr11:101366094-101366095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561400393	chr11:101366142-101366143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10895119	chr11:101366191-101366192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540377315	chr11:101366321-101366322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563203011	chr11:101366322-101366323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101337800-101368200	Weak transcription	Ovary	ovary
2	chr11:101350000-101384800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:101359000-101372200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:101360000-101369000	Weak transcription	NHDF-Ad	bronchial
5	chr11:101362400-101373400	Weak transcription	Fetal Lung	lung
6	chr11:101363400-101369600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:101367600-101367800	Enhancers	Fetal Brain Male	brain
8	chr11:101367800-101368200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:101368200-101368600	Enhancers	Ovary	ovary
10	chr11:101368400-101374800	Weak transcription	Aorta	Aorta
11	chr11:101368600-101372200	Weak transcription	Ovary	ovary
12	chr11:101369000-101370000	Enhancers	NHDF-Ad	bronchial

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