Variant report

Variant	esv3466197
Chromosome Location	chr11:106784242-106789940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:192 , 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	rs548915183	chr11:106784245-106784246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569910517	chr11:106784253-106784254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191913082	chr11:106784291-106784292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148261195	chr11:106784295-106784296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73553852	chr11:106784306-106784307	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570913655	chr11:106784314-106784315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183504038	chr11:106784356-106784357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553527739	chr11:106784384-106784385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565557977	chr11:106784400-106784401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536104058	chr11:106784408-106784409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186680381	chr11:106784416-106784417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576307836	chr11:106784506-106784507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386757214	chr11:106784514-106784515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543398500	chr11:106784591-106784592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558304287	chr11:106784603-106784604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576991221	chr11:106784627-106784628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115451507	chr11:106784704-106784705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559952665	chr11:106784706-106784707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575094799	chr11:106784709-106784710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373487476	chr11:106784711-106784712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11325847	chr11:106784722-106784723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539442375	chr11:106784726-106784727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564004109	chr11:106784766-106784767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531149010	chr11:106784777-106784778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191493765	chr11:106784803-106784804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564349413	chr11:106784832-106784833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528534493	chr11:106784873-106784874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546701194	chr11:106784874-106784875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565494073	chr11:106784879-106784880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9667916	chr11:106784955-106784956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548126871	chr11:106785016-106785017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551289732	chr11:106785086-106785087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12282090	chr11:106785139-106785140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs536975618	chr11:106785172-106785173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538922889	chr11:106785179-106785180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576930639	chr11:106785269-106785270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147510229	chr11:106785319-106785320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558266911	chr11:106785323-106785324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182533550	chr11:106785348-106785349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35873232	chr11:106785361-106785362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188000259	chr11:106785405-106785406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144529169	chr11:106785425-106785426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs118093724	chr11:106785440-106785441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10789551	chr11:106785447-106785448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575871721	chr11:106785462-106785463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546199636	chr11:106785464-106785465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564102659	chr11:106785493-106785494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528473982	chr11:106785510-106785511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112173007	chr11:106785563-106785564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561839895	chr11:106785575-106785576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106783800-106785800	Weak transcription	Fetal Lung	lung
2	chr11:106784000-106784400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:106784000-106784400	Enhancers	Pancreas	Pancrea
4	chr11:106785800-106786200	ZNF genes & repeats	Fetal Lung	lung
5	chr11:106786200-106806800	Weak transcription	Fetal Lung	lung
6	chr11:106786600-106787200	Enhancers	Fetal Heart	heart

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