Variant report
| Variant | esv2231987 |
|---|---|
| Chromosome Location | chr5:100549117-100549586 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs146309237 | chr5:100549177-100549178 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs551070960 | chr5:100549201-100549202 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs73161213 | chr5:100549208-100549209 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs190638635 | chr5:100549213-100549214 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs554514800 | chr5:100549239-100549240 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs566419100 | chr5:100549249-100549250 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs201338437 | chr5:100549279-100549280 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs554555123 | chr5:100549301-100549302 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs533869295 | chr5:100549306-100549307 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs558107472 | chr5:100549321-100549322 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs59717642 | chr5:100549334-100549335 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs543935568 | chr5:100549437-100549438 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs556230546 | chr5:100549438-100549439 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs531831199 | chr5:100549492-100549493 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs181114213 | chr5:100549545-100549546 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs185356449 | chr5:100549548-100549549 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs368676650 | chr5:100549550-100549551 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs577365008 | chr5:100549551-100549552 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs397767829 | chr5:100549559-100549560 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:83)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Cancer | 16751803 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioma | 20126413 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Cancer | 21359685 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| adenomatous polyposis | 22470819 | CNVD |
| Cancer | 22429812 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Leukemia | 17361228 | CNVD |
| Myelodysplastic syndrome | 18508791 | CNVD |
| 5q-syndrome | 17576883 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Merkel cell carcinoma | 19020549 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Cancer | 20164920 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| abnormal development | 18461090 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:100548600-100550000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 2 | chr5:100548800-100549400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr5:100548800-100549600 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
| 4 | chr5:100548800-100549600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 5 | chr5:100548800-100549600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 6 | chr5:100548800-100549800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 7 | chr5:100548800-100550000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 8 | chr5:100548800-100550200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 9 | chr5:100549000-100549800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
