Variant report

Variant	esv3449877
Chromosome Location	chr11:101672842-101675090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111979188	chr11:101672857-101672858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577720444	chr11:101672872-101672873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569890900	chr11:101672893-101672894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140593062	chr11:101672894-101672895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555651055	chr11:101672918-101672919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372265872	chr11:101672932-101672933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4503501	chr11:101672940-101672941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544840013	chr11:101672987-101672988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182059273	chr11:101672988-101672989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529586026	chr11:101673031-101673032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187865373	chr11:101673043-101673044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192498209	chr11:101673044-101673045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10466637	chr11:101673072-101673073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528819337	chr11:101673076-101673077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542917734	chr11:101673084-101673085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183998046	chr11:101673110-101673111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551601937	chr11:101673140-101673141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528694636	chr11:101673141-101673142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551928350	chr11:101673150-101673151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565282122	chr11:101673151-101673152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531023666	chr11:101673196-101673197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372174811	chr11:101673205-101673206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531889718	chr11:101673208-101673209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550754673	chr11:101673226-101673227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567664374	chr11:101673241-101673242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4754023	chr11:101673264-101673265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs571376004	chr11:101673290-101673291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549311624	chr11:101673299-101673300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188890089	chr11:101673312-101673313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534843392	chr11:101673322-101673323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557932209	chr11:101673323-101673324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375105744	chr11:101673346-101673347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577707868	chr11:101673365-101673366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199952969	chr11:101673366-101673367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537160435	chr11:101673390-101673391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556734996	chr11:101673391-101673392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573325499	chr11:101673402-101673403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542183565	chr11:101673431-101673432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112704147	chr11:101673480-101673481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559646847	chr11:101673518-101673519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573196377	chr11:101673525-101673526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545317740	chr11:101673546-101673547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565484261	chr11:101673720-101673721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192050406	chr11:101673728-101673729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150681330	chr11:101673734-101673735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184599641	chr11:101673743-101673744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530431441	chr11:101673780-101673781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371167483	chr11:101673799-101673800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1939069	chr11:101673819-101673820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535423817	chr11:101673895-101673896	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
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
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101669200-101674200	Weak transcription	NHDF-Ad	bronchial
2	chr11:101671800-101674600	Weak transcription	Fetal Lung	lung
3	chr11:101672200-101674800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:101674200-101675200	Enhancers	NHDF-Ad	bronchial
5	chr11:101674600-101675800	Enhancers	Fetal Lung	lung
6	chr11:101674800-101675200	Enhancers	Ovary	ovary
7	chr11:101674800-101675400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:101674800-101675400	Enhancers	NHLF	lung

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