Variant report
| Variant | esv33374 |
|---|---|
| Chromosome Location | chr11:102477417-102479840 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:19)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:4)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:19 , 50 per page) page:
1
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-RP11-817J15.3.1-2 | chr11:102478098-102478183 | ENSG00000256916.1 |
| 2 | lnc-RP11-817J15.3.1-2 | chr11:102477932-102478183 | ENSG00000256916.1 |
| 3 | lnc-RP11-817J15.3.1-2 | chr11:102477647-102477724 | ENSG00000256916.1 |
| 4 | lnc-RP11-817J15.3.1-2 | chr11:102478441-102478853 | ENSG00000256916.1 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| MMP20 | TF binding region |
| ENSG00000256916 | TF binding region |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs375255666 | chr11:102477442-102477443 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs187593820 | chr11:102477449-102477450 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs575782930 | chr11:102477458-102477459 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs192845436 | chr11:102477493-102477494 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs555131962 | chr11:102477501-102477502 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs544768610 | chr11:102477502-102477503 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs3781787 | chr11:102477515-102477516 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 8 | rs3781788 | chr11:102477556-102477557 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs184690824 | chr11:102477602-102477603 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs11825664 | chr11:102477641-102477642 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs540658156 | chr11:102477685-102477686 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 12 | rs149336200 | chr11:102477754-102477755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs17098870 | chr11:102477777-102477778 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs147629756 | chr11:102477840-102477841 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs577725428 | chr11:102477894-102477895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs545213030 | chr11:102477904-102477905 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs568244011 | chr11:102477938-102477939 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 18 | rs527629676 | chr11:102477947-102477948 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 19 | rs188380207 | chr11:102477951-102477952 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 20 | rs17098874 | chr11:102477954-102477955 | Weak transcription | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs17098880 | chr11:102477966-102477967 | Weak transcription | TF binding regionlncRNA | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs17098885 | chr11:102477998-102477999 | Weak transcription | TF binding regionlncRNA | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs192315148 | chr11:102478044-102478045 | Weak transcription Enhancers | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs538317864 | chr11:102478071-102478072 | Weak transcription Enhancers | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs554908699 | chr11:102478079-102478080 | Weak transcription Enhancers | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs368159032 | chr11:102478112-102478113 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 27 | rs574964501 | chr11:102478123-102478124 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 28 | rs147686341 | chr11:102478125-102478126 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 29 | rs183768906 | chr11:102478167-102478168 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 30 | rs17174317 | chr11:102478170-102478171 | Weak transcription Enhancers | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 31 | rs142253202 | chr11:102478171-102478172 | Weak transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 32 | rs1711426 | chr11:102478179-102478180 | Weak transcription Enhancers | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 33 | rs189179217 | chr11:102478224-102478225 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs541900618 | chr11:102478230-102478231 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs1711425 | chr11:102478260-102478261 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 36 | rs1711424 | chr11:102478270-102478271 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 37 | rs181895381 | chr11:102478299-102478300 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs547248473 | chr11:102478314-102478315 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs17174325 | chr11:102478337-102478338 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs184212094 | chr11:102478356-102478357 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs3216097 | chr11:102478367-102478368 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs201256794 | chr11:102478368-102478369 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs397954836 | chr11:102478370-102478371 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs201397591 | chr11:102478371-102478372 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs569268854 | chr11:102478417-102478418 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs1711423 | chr11:102478420-102478421 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 47 | rs548669964 | chr11:102478422-102478423 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs568414155 | chr11:102478427-102478428 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs17174327 | chr11:102478446-102478447 | Weak transcription Enhancers | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 50 | rs1784422 | chr11:102478466-102478467 | Weak transcription Enhancers | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:87)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 22429812 | CNVD |
| Breast cancer | 16608533 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Hepatocellular carcinoma | 16785998 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Melanoma | 22183965 | CNVD |
| Breast cancer | 21958427 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 17603634 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Basal cell lymphoma | 16790693 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Breast cancer | 21364760 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Mental retardation | 19966786 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Melanoma | 17363583 | CNVD |
| Chronic lymphocytic leukemia | 17805327 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Neuroblastoma | 17327916 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:102474600-102486400 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 2 | chr11:102475200-102486200 | Weak transcription | HSMMtube | muscle |
| 3 | chr11:102475400-102483600 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 4 | chr11:102475800-102478800 | Weak transcription | A549 | lung |
| 5 | chr11:102475800-102484200 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 6 | chr11:102476000-102478400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 7 | chr11:102476000-102479400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 8 | chr11:102476000-102484600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 9 | chr11:102476000-102486400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 10 | chr11:102476200-102479400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 11 | chr11:102476200-102484000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 12 | chr11:102476200-102484000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 13 | chr11:102476600-102478000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 14 | chr11:102476600-102486400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 15 | chr11:102478000-102478400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 16 | chr11:102478000-102480600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 17 | chr11:102478400-102478600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 18 | chr11:102478400-102478600 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 19 | chr11:102478600-102484000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 20 | chr11:102478600-102486200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 21 | chr11:102478800-102479000 | Enhancers | A549 | lung |
| 22 | chr11:102479000-102479400 | Weak transcription | A549 | lung |
| 23 | chr11:102479400-102479600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 24 | chr11:102479400-102479800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 25 | chr11:102479400-102480200 | Enhancers | A549 | lung |
