Variant report
| Variant | esv3386594 |
|---|---|
| Chromosome Location | chr5:101524403-101529301 |
| 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:37 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs548477617 | chr5:101525015-101525016 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs190416476 | chr5:101525045-101525046 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs373872407 | chr5:101525050-101525051 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs373620009 | chr5:101525074-101525075 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs7712241 | chr5:101525077-101525078 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs181727967 | chr5:101525129-101525130 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs537862896 | chr5:101525150-101525151 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs556010057 | chr5:101525177-101525178 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs568250629 | chr5:101525206-101525207 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs535783435 | chr5:101525208-101525209 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs10078954 | chr5:101525222-101525223 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs374904593 | chr5:101525223-101525224 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs572209195 | chr5:101525239-101525240 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs545876711 | chr5:101525245-101525246 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs368580680 | chr5:101525249-101525250 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs371899277 | chr5:101525258-101525259 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs543422478 | chr5:101525269-101525270 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs113631180 | chr5:101525275-101525276 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs561755174 | chr5:101525294-101525295 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs530316918 | chr5:101525332-101525333 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs542553688 | chr5:101525341-101525342 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs560432004 | chr5:101525416-101525417 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs4635916 | chr5:101525437-101525438 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs370504028 | chr5:101525492-101525493 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs376749046 | chr5:101525499-101525500 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs369756787 | chr5:101525503-101525504 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs374453519 | chr5:101525549-101525550 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs570255267 | chr5:101525555-101525556 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs534303545 | chr5:101525559-101525560 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs546218480 | chr5:101525578-101525579 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs376676120 | chr5:101525605-101525606 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs368753911 | chr5:101525611-101525612 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs261090 | chr5:101525659-101525660 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs261089 | chr5:101525668-101525669 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs373192015 | chr5:101525803-101525804 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs375655457 | chr5:101525845-101525846 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs376405170 | chr5:101525857-101525858 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:84)
| 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 |
| Breast cancer | 21509527 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:101525000-101526000 | Active TSS | HUES6 Cell Line | embryonic stem cell |
