Variant report

Variant	esv2435045
Chromosome Location	chr11:101297975-101299670
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	chr11:101296877..101299041-chr11:101301262..101303756,2	MCF-7	breast:
2	chr11:101274863..101277207-chr11:101298485..101301101,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 84 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145212093	chr11:101297978-101297979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112707631	chr11:101297988-101297989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564543871	chr11:101298047-101298048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12795968	chr11:101298048-101298049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12798288	chr11:101298056-101298057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562792868	chr11:101298082-101298083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374789849	chr11:101298148-101298149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531498944	chr11:101298219-101298220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139926438	chr11:101298301-101298302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575986449	chr11:101298317-101298318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552840378	chr11:101298352-101298353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12803560	chr11:101298366-101298367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12802904	chr11:101298436-101298437	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs72982262	chr11:101298470-101298471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570387202	chr11:101298472-101298473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149894869	chr11:101298512-101298513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556414494	chr11:101298519-101298520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12803811	chr11:101298547-101298548	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144949610	chr11:101298635-101298636	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560372640	chr11:101298658-101298659	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555958080	chr11:101298664-101298665	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572436605	chr11:101298717-101298718	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11224759	chr11:101298720-101298721	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557971895	chr11:101298736-101298737	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76279625	chr11:101298759-101298760	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190994517	chr11:101298793-101298794	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371784112	chr11:101298818-101298819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34268595	chr11:101298875-101298876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562754631	chr11:101298897-101298898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148604695	chr11:101298907-101298908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541657440	chr11:101298940-101298941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182081538	chr11:101298978-101298979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527504150	chr11:101299025-101299026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35654100	chr11:101299086-101299087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570477914	chr11:101299103-101299104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187036198	chr11:101299162-101299163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376058399	chr11:101299261-101299262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55837513	chr11:101299293-101299294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs191571682	chr11:101299313-101299314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184395233	chr11:101299358-101299359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188566722	chr11:101299367-101299368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536913607	chr11:101299375-101299376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534925155	chr11:101299378-101299379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77886644	chr11:101299397-101299398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193146758	chr11:101299415-101299416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200835850	chr11:101299421-101299422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116665033	chr11:101299431-101299432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185640739	chr11:101299532-101299533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557436663	chr11:101299632-101299633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576395387	chr11:101299636-101299637	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101283600-101299800	Weak transcription	Ovary	ovary
2	chr11:101298200-101300000	Weak transcription	Fetal Lung	lung
3	chr11:101298400-101298600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:101298600-101298800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr11:101298600-101298800	Enhancers	Osteobl	bone
6	chr11:101298800-101299000	Enhancers	Rectal Smooth Muscle	rectum
7	chr11:101299000-101300000	Weak transcription	Rectal Smooth Muscle	rectum

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