Variant report

Variant	esv3353585
Chromosome Location	chr11:105554242-105557340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531623190	chr11:105554377-105554378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112637127	chr11:105554382-105554383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181323831	chr11:105554400-105554401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561396197	chr11:105554501-105554502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148688929	chr11:105554564-105554565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550686447	chr11:105554565-105554566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186530228	chr11:105554577-105554578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533153597	chr11:105554580-105554581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550100459	chr11:105554582-105554583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376653235	chr11:105554600-105554601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367609959	chr11:105554609-105554610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551560478	chr11:105554610-105554611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556465985	chr11:105554665-105554666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369149701	chr11:105554666-105554667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566658739	chr11:105554679-105554680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527629868	chr11:105554698-105554699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2898217	chr11:105554720-105554721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142847131	chr11:105554751-105554752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201456521	chr11:105554780-105554781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190885330	chr11:105554841-105554842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180825512	chr11:105554847-105554848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185807933	chr11:105554894-105554895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191110565	chr11:105554896-105554897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147404958	chr11:105554898-105554899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115019747	chr11:105554974-105554975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538581981	chr11:105555018-105555019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572302740	chr11:105555025-105555026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547098642	chr11:105555058-105555059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183208007	chr11:105555063-105555064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187664761	chr11:105555072-105555073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573599181	chr11:105555106-105555107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565734241	chr11:105555168-105555169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17104432	chr11:105555192-105555193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536810906	chr11:105555235-105555236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376651585	chr11:105555273-105555274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72399419	chr11:105555274-105555275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386374773	chr11:105555281-105555282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373640859	chr11:105555287-105555288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60905698	chr11:105555288-105555289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75383031	chr11:105555396-105555397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532924693	chr11:105555426-105555427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190635638	chr11:105555438-105555439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151058775	chr11:105555446-105555447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527466849	chr11:105555460-105555461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549313686	chr11:105555515-105555516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79330338	chr11:105555620-105555621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531733339	chr11:105555670-105555671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12417399	chr11:105555784-105555785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4755108	chr11:105555791-105555792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7102567	chr11:105555845-105555846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
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
Melanoma	17363583	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
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105524200-105556800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:105556800-105557000	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:105557000-105557200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
4	chr11:105557200-105560600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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