Variant report

Variant	esv3437774
Chromosome Location	chr11:100476342-100476811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572912610	chr11:100476343-100476344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80280902	chr11:100476356-100476357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367609486	chr11:100476357-100476358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs68041983	chr11:100476360-100476361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368052456	chr11:100476389-100476390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565149212	chr11:100476407-100476408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377089955	chr11:100476408-100476409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530842610	chr11:100476416-100476417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181674369	chr11:100476468-100476469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560897763	chr11:100476518-100476519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529794772	chr11:100476522-100476523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549490523	chr11:100476524-100476525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371605080	chr11:100476526-100476527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546420005	chr11:100476527-100476528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149183847	chr11:100476543-100476544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561415384	chr11:100476552-100476553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538582396	chr11:100476553-100476554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532548371	chr11:100476567-100476568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552372256	chr11:100476570-100476571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569171512	chr11:100476571-100476572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187642941	chr11:100476572-100476573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558316694	chr11:100476577-100476578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554521174	chr11:100476591-100476592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568162733	chr11:100476599-100476600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111335707	chr11:100476611-100476612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1783686	chr11:100476617-100476618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577290824	chr11:100476627-100476628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554719826	chr11:100476661-100476662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544842854	chr11:100476662-100476663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574664279	chr11:100476696-100476697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141998104	chr11:100476724-100476725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58260235	chr11:100476725-100476726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544567047	chr11:100476736-100476737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79924291	chr11:100476801-100476802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61475973	chr11:100476809-100476810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7117887	chr11:100476810-100476811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7117888	chr11:100476811-100476812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	22183965	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
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100465400-100478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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