Variant report
| Variant | esv1792254 |
|---|---|
| Chromosome Location | chr3:68736176-68748891 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:95699874..95700489-chr3:68738675..68739508,2 | HCT-116 | colon: |
| No data |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs530015664 | chr3:68741228-68741229 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs543521432 | chr3:68741244-68741245 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs113294934 | chr3:68741282-68741283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs560609220 | chr3:68741335-68741336 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs10718374 | chr3:68741356-68741357 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs75615786 | chr3:68741426-68741427 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs532901608 | chr3:68741448-68741449 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs144443316 | chr3:68741467-68741468 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs569433334 | chr3:68741685-68741686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs538444525 | chr3:68741743-68741744 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs144546816 | chr3:68741776-68741777 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs191314540 | chr3:68742002-68742003 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs533537460 | chr3:68742102-68742103 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs114655011 | chr3:68742189-68742190 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs577062098 | chr3:68742202-68742203 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs184526772 | chr3:68742209-68742210 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs543229848 | chr3:68742223-68742224 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs539391008 | chr3:68742236-68742237 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs556052061 | chr3:68742289-68742290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs189138433 | chr3:68742341-68742342 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs142875321 | chr3:68742565-68742566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs151050479 | chr3:68742635-68742636 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs541645533 | chr3:68742640-68742641 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs554732902 | chr3:68742650-68742651 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs192833073 | chr3:68742795-68742796 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs111885452 | chr3:68742802-68742803 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs535304968 | chr3:68742838-68742839 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs560573982 | chr3:68742864-68742865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs558476083 | chr3:68742869-68742870 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs146888427 | chr3:68742879-68742880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs185415285 | chr3:68742901-68742902 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs76091249 | chr3:68742922-68742923 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs563193749 | chr3:68743020-68743021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs542890596 | chr3:68743157-68743158 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs531904778 | chr3:68743162-68743163 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs1995502 | chr3:68743217-68743218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs34922704 | chr3:68743252-68743253 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs548797397 | chr3:68743253-68743254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs140704640 | chr3:68743272-68743273 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs527430935 | chr3:68743313-68743314 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs202230394 | chr3:68743331-68743332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs113926475 | chr3:68743340-68743341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs116054588 | chr3:68743341-68743342 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs145842770 | chr3:68743362-68743363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs570075879 | chr3:68743363-68743364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs539052280 | chr3:68743411-68743412 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs556012001 | chr3:68743466-68743467 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs370224058 | chr3:68743473-68743474 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs138278173 | chr3:68743533-68743534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs531485772 | chr3:68743593-68743594 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:82)
| Disease | PMID | Source |
|---|---|---|
| Melanoma | 18172304 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Insulin resistance | 16721378 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Epithelial cancer | 22065749 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Pancreatic endocrine tumor | 20981439 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 19490591 | CNVD |
| Autism | 18414403 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Metastatic melanoma | 17975146 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Autism | 22102821 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Alzheimer''s disease | 22166940 | CNVD |
| Mental retardation | 20848658 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Breast cancer | 21364760 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:68741200-68741600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 2 | chr3:68741600-68744000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 3 | chr3:68743600-68744200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 4 | chr3:68744000-68744800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 5 | chr3:68744000-68744800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 6 | chr3:68748200-68748600 | Enhancers | Fetal Lung | lung |
