Variant report

Variant	esv3437231
Chromosome Location	chr11:104880142-104881190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12793241	chr11:104880163-104880164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146888930	chr11:104880165-104880166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs45580939	chr11:104880174-104880175	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564647800	chr11:104880187-104880188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533317587	chr11:104880216-104880217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36061073	chr11:104880261-104880262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374656378	chr11:104880276-104880277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370369358	chr11:104880316-104880317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75045852	chr11:104880317-104880318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3181317	chr11:104880331-104880332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559981548	chr11:104880353-104880354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34182694	chr11:104880359-104880360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540873094	chr11:104880378-104880379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550790237	chr11:104880395-104880396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140705450	chr11:104880398-104880399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367820511	chr11:104880442-104880443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs66726608	chr11:104880447-104880448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199695891	chr11:104880448-104880449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12793846	chr11:104880449-104880450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12793847	chr11:104880451-104880452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184011071	chr11:104880467-104880468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113619637	chr11:104880475-104880476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370411989	chr11:104880477-104880478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373580184	chr11:104880479-104880480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377601087	chr11:104880481-104880482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56715074	chr11:104880483-104880484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs60721954	chr11:104880485-104880486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2455780	chr11:104880487-104880488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35870613	chr11:104880498-104880499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372301651	chr11:104880499-104880500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71997097	chr11:104880502-104880503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182745919	chr11:104880513-104880514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141967107	chr11:104880520-104880521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12793886	chr11:104880521-104880522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12788853	chr11:104880522-104880523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11226577	chr11:104880543-104880544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113089122	chr11:104880550-104880551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375130701	chr11:104880556-104880557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551086772	chr11:104880561-104880562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187033528	chr11:104880565-104880566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11226578	chr11:104880571-104880572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112340985	chr11:104880589-104880590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201938249	chr11:104880592-104880593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184548276	chr11:104880615-104880616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573531375	chr11:104880626-104880627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530093522	chr11:104880628-104880629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11226579	chr11:104880635-104880636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200875915	chr11:104880638-104880639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11226580	chr11:104880639-104880640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566774056	chr11:104880647-104880648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104878200-104881600	Weak transcription	HepG2	liver
2	chr11:104879800-104880200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:104880200-104881400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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