Variant report

Variant	esv3394262
Chromosome Location	chr11:101369492-101371890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 84 )

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	rs185530466	chr11:101369492-101369493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534643574	chr11:101369568-101369569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550932885	chr11:101369610-101369611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146248927	chr11:101369647-101369648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143384894	chr11:101369651-101369652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138115012	chr11:101369652-101369653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71056612	chr11:101369655-101369656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571620571	chr11:101369697-101369698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139419236	chr11:101369698-101369699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567516674	chr11:101369712-101369713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10791486	chr11:101369747-101369748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs78691788	chr11:101369765-101369766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79163741	chr11:101369772-101369773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553465963	chr11:101369786-101369787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556603035	chr11:101369800-101369801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573233626	chr11:101369829-101369830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10895124	chr11:101369839-101369840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189991620	chr11:101369859-101369860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11224790	chr11:101369933-101369934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554218330	chr11:101369975-101369976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183774603	chr11:101369983-101369984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11224791	chr11:101369984-101369985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs11224792	chr11:101370023-101370024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs79866909	chr11:101370065-101370066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540525612	chr11:101370123-101370124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139620554	chr11:101370124-101370125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529822128	chr11:101370172-101370173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528139244	chr11:101370193-101370194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550969689	chr11:101370242-101370243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12222976	chr11:101370297-101370298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146159741	chr11:101370317-101370318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71056613	chr11:101370318-101370319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540438012	chr11:101370326-101370327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370034899	chr11:101370328-101370329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75587259	chr11:101370329-101370330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71460074	chr11:101370333-101370334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375026688	chr11:101370334-101370335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71462686	chr11:101370336-101370337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567847250	chr11:101370357-101370358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375668565	chr11:101370371-101370372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188305754	chr11:101370380-101370381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536876725	chr11:101370381-101370382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546388601	chr11:101370382-101370383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553262481	chr11:101370383-101370384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112936118	chr11:101370395-101370396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192457647	chr11:101370400-101370401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566967166	chr11:101370407-101370408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373577890	chr11:101370408-101370409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530350212	chr11:101370459-101370460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573328647	chr11:101370481-101370482	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101350000-101384800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:101359000-101372200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:101362400-101373400	Weak transcription	Fetal Lung	lung
4	chr11:101363400-101369600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:101368400-101374800	Weak transcription	Aorta	Aorta
6	chr11:101368600-101372200	Weak transcription	Ovary	ovary
7	chr11:101369000-101370000	Enhancers	NHDF-Ad	bronchial
8	chr11:101369600-101370000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:101370000-101371600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:101371600-101376200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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