Variant report
| Variant | esv3404651 |
|---|---|
| Chromosome Location | chr11:25175425-25207103 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:25183407..25185037-chr11:25191634..25194000,2 | K562 | blood: | |
| 2 | chr11:25196548..25198799-chr11:25203562..25205354,2 | MCF-7 | breast: | |
| 3 | chr11:25183407..25185037-chr11:25191634..25194000,2 | K562 | blood: | |
| 4 | chr11:25196548..25198799-chr11:25203562..25205354,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs142665486 | chr11:25176002-25176003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs576658271 | chr11:25176027-25176028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs150587757 | chr11:25176035-25176036 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs28432963 | chr11:25176047-25176048 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs556474925 | chr11:25176075-25176076 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs576646992 | chr11:25176084-25176085 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs61668023 | chr11:25176112-25176113 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs562268842 | chr11:25176124-25176125 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs543788077 | chr11:25176128-25176129 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs572538241 | chr11:25176159-25176160 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs376543177 | chr11:25176196-25176197 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs139483213 | chr11:25176237-25176238 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs533398365 | chr11:25176250-25176251 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs550163000 | chr11:25176258-25176259 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs563597870 | chr11:25176261-25176262 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs117567443 | chr11:25176270-25176271 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs548916840 | chr11:25176271-25176272 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs34464609 | chr11:25176288-25176289 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs541648572 | chr11:25176289-25176290 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs534514996 | chr11:25176320-25176321 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs371739367 | chr11:25176325-25176326 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs551090437 | chr11:25176353-25176354 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs1596840 | chr11:25176361-25176362 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs533482802 | chr11:25176392-25176393 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| 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 |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:25176000-25176400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
