Variant report

Variant	esv3405526
Chromosome Location	chr11:101275692-101277190
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	chr11:101273217..101274799-chr11:101277043..101279402,2	MCF-7	breast:
2	chr11:101274863..101277207-chr11:101298485..101301101,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7114691	chr11:101275698-101275699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529813091	chr11:101275749-101275750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs118138739	chr11:101275796-101275797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566493505	chr11:101275825-101275826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532853894	chr11:101275860-101275861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545886716	chr11:101275900-101275901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540887896	chr11:101275901-101275902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148401037	chr11:101275910-101275911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552948364	chr11:101275945-101275946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7126473	chr11:101276002-101276003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111509728	chr11:101276003-101276004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560520861	chr11:101276016-101276017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555164475	chr11:101276022-101276023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568426530	chr11:101276038-101276039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534334331	chr11:101276042-101276043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553857210	chr11:101276044-101276045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577212912	chr11:101276059-101276060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544893834	chr11:101276060-101276061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200956764	chr11:101276061-101276062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542524329	chr11:101276067-101276068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67994493	chr11:101276070-101276071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558389916	chr11:101276073-101276074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187918331	chr11:101276079-101276080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7115209	chr11:101276122-101276123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4385867	chr11:101276135-101276136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529733144	chr11:101276138-101276139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113553330	chr11:101276163-101276164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550732258	chr11:101276217-101276218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577159773	chr11:101276225-101276226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542842895	chr11:101276258-101276259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551840244	chr11:101276297-101276298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112357901	chr11:101276390-101276391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549721595	chr11:101276428-101276429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200396377	chr11:101276490-101276491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559884962	chr11:101276529-101276530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140693673	chr11:101276579-101276580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542136726	chr11:101276591-101276592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192438142	chr11:101276603-101276604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371173169	chr11:101276604-101276605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552207551	chr11:101276611-101276612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71053196	chr11:101276617-101276618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569540769	chr11:101276663-101276664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148956937	chr11:101276676-101276677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532057157	chr11:101276682-101276683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548477731	chr11:101276742-101276743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183855172	chr11:101276874-101276875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113701400	chr11:101276922-101276923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375814533	chr11:101276933-101276934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540268724	chr11:101277001-101277002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74615778	chr11:101277034-101277035	Enhancers 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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101253600-101278200	Weak transcription	Ovary	ovary
2	chr11:101276800-101277600	Enhancers	Colon Smooth Muscle	Colon
3	chr11:101276800-101280000	Enhancers	Rectal Smooth Muscle	rectum
4	chr11:101277000-101278000	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr11:101277000-101278600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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