Variant report

Variant	esv3379197
Chromosome Location	chr11:26267126-26269274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183079185	chr11:26267176-26267177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563742200	chr11:26267213-26267214	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116968508	chr11:26267242-26267243	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573617536	chr11:26267266-26267267	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs530339227	chr11:26267275-26267276	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548717428	chr11:26267303-26267304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs188161840	chr11:26267330-26267331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs531403169	chr11:26267401-26267402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs147873936	chr11:26267425-26267426	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549596301	chr11:26267432-26267433	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs11029421	chr11:26267440-26267441	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538634639	chr11:26267441-26267442	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192640054	chr11:26267468-26267469	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549355258	chr11:26267541-26267542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs565939549	chr11:26267567-26267568	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs548136248	chr11:26267608-26267609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558936860	chr11:26267671-26267672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116357128	chr11:26267673-26267674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140460798	chr11:26267675-26267676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116882139	chr11:26267680-26267681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150159944	chr11:26267701-26267702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372039237	chr11:26267713-26267714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540989525	chr11:26267769-26267770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145642093	chr11:26267787-26267788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111773780	chr11:26267820-26267821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376906547	chr11:26267821-26267822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117272809	chr11:26267921-26267922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150219099	chr11:26268003-26268004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201545302	chr11:26268004-26268005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143735175	chr11:26268013-26268014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574573156	chr11:26268098-26268099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182990615	chr11:26268099-26268100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530991686	chr11:26268171-26268172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552782079	chr11:26268176-26268177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148866121	chr11:26268209-26268210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12277400	chr11:26268217-26268218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs61877706	chr11:26268222-26268223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138079928	chr11:26268229-26268230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148081344	chr11:26268246-26268247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs3059317	chr11:26268247-26268248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200939828	chr11:26268248-26268249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186762400	chr11:26268255-26268256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566104155	chr11:26268263-26268264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569983474	chr11:26268277-26268278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536846710	chr11:26268284-26268285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558342675	chr11:26268286-26268287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142448909	chr11:26268351-26268352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78620294	chr11:26268362-26268363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35442841	chr11:26268367-26268368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11029422	chr11:26268403-26268404	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	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
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26264600-26269000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:26265000-26267200	Enhancers	NHLF	lung
3	chr11:26265200-26267200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr11:26265200-26267200	Enhancers	NHDF-Ad	bronchial
5	chr11:26265200-26268800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:26266400-26267200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:26266400-26267400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:26266400-26267400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:26267000-26268600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:26267200-26267600	Flanking Active TSS	NHDF-Ad	bronchial
11	chr11:26267200-26268400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:26267200-26268800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:26267200-26275200	Weak transcription	NHLF	lung
14	chr11:26267400-26268400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:26267400-26268600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:26267400-26268800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:26267600-26269000	Enhancers	NHDF-Ad	bronchial
18	chr11:26268400-26269200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:26268400-26274600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:26268600-26269600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:26268800-26269000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:26268800-26269200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:26268800-26269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:26268800-26269200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:26269000-26272200	Weak transcription	NHDF-Ad	bronchial
26	chr11:26269200-26270000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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