Variant report

Variant	esv2760164
Chromosome Location	chr11:25445635-25467085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 253 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7941593	chr11:25445635-25445636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547207014	chr11:25445689-25445690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554167644	chr11:25445706-25445707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566943372	chr11:25445720-25445721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532692203	chr11:25445738-25445739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552398245	chr11:25445739-25445740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568975941	chr11:25445757-25445758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372832469	chr11:25445766-25445767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79829192	chr11:25445784-25445785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375995941	chr11:25445786-25445787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548472355	chr11:25445791-25445792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149091025	chr11:25445829-25445830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568045039	chr11:25445866-25445867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377276168	chr11:25445880-25445881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4262688	chr11:25445914-25445915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551061358	chr11:25445923-25445924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553977757	chr11:25445956-25445957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368734084	chr11:25445967-25445968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371771190	chr11:25445997-25445998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376907072	chr11:25446802-25446803	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs369039068	chr11:25446803-25446804	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562729753	chr11:25446805-25446806	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs71458943	chr11:25446809-25446810	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs71478140	chr11:25446833-25446834	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs71458944	chr11:25446835-25446836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs567940619	chr11:25446840-25446841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs561807326	chr11:25446844-25446845	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs71458945	chr11:25446846-25446847	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs71458946	chr11:25446860-25446861	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs71458947	chr11:25446867-25446868	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs547185162	chr11:25446878-25446879	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs71458948	chr11:25446894-25446895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs374053620	chr11:25446934-25446935	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111674343	chr11:25446952-25446953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs527703272	chr11:25446957-25446958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113213194	chr11:25446959-25446960	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375974597	chr11:25446965-25446966	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs370735257	chr11:25446968-25446969	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs113140370	chr11:25446970-25446971	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs200757536	chr11:25446997-25446998	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs184890106	chr11:25447000-25447001	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs555516670	chr11:25447001-25447002	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371420671	chr11:25447007-25447008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562860901	chr11:25447017-25447018	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs138528980	chr11:25447018-25447019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs572079142	chr11:25447042-25447043	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs534350057	chr11:25447043-25447044	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs112001884	chr11:25447048-25447049	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs200464754	chr11:25447057-25447058	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112854497	chr11:25447098-25447099	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25445200-25445800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:25445200-25446000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:25446800-25447400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:25456000-25456800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr11:25456400-25457800	Enhancers	HepG2	liver
6	chr11:25456600-25457400	Enhancers	Liver	Liver
7	chr11:25460000-25460200	Enhancers	Fetal Kidney	kidney
8	chr11:25462400-25463000	Enhancers	Brain Germinal Matrix	brain
9	chr11:25462400-25463200	Enhancers	Fetal Lung	lung
10	chr11:25462400-25464400	Enhancers	Fetal Stomach	stomach
11	chr11:25462600-25463400	Enhancers	Fetal Kidney	kidney
12	chr11:25462600-25464200	Enhancers	Adipose Nuclei	Adipose
13	chr11:25462800-25464200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:25463000-25464200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:25463000-25464400	Enhancers	Colon Smooth Muscle	Colon
16	chr11:25463200-25463400	Enhancers	Liver	Liver
17	chr11:25463200-25464000	Weak transcription	Fetal Lung	lung
18	chr11:25464000-25464400	Enhancers	Fetal Lung	lung
19	chr11:25464200-25464400	Enhancers	Liver	Liver
20	chr11:25464400-25464800	Enhancers	Pancreatic Islets	Pancreatic Islet

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