Variant report
| Variant | esv3340659 |
|---|---|
| Chromosome Location | chr14:42628251-42652539 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:2)
- 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 | chr14:42645764..42648661-chr14:42652288..42655011,2 | K562 | blood: | |
| 2 | chr14:42639053..42641369-chr14:42641702..42644557,2 | K562 | blood: | |
| 3 | chr14:42639053..42641369-chr14:42641702..42644557,2 | K562 | blood: | |
| 4 | chr14:42645764..42648661-chr14:42652288..42655011,2 | K562 | blood: |
(count:2 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-RP11-214N1.1.1-4 | chr14:42636197-42636280 | NONHSAT036584 |
| 2 | lnc-RP11-214N1.1.1-4 | chr14:42643642-42643785 | NONHSAT036584 |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:16 , 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 | rs12487930 | chr14:42636198-42636199 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs56914465 | chr14:42636201-42636202 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs144077080 | chr14:42636224-42636225 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs4321470 | chr14:42636254-42636255 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs111454580 | chr14:42636263-42636264 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs557581780 | chr14:42636265-42636266 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs6624815 | chr14:42636271-42636272 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs374144967 | chr14:42643642-42643643 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 9 | rs80156532 | chr14:42643653-42643654 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 10 | rs569917738 | chr14:42643669-42643670 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 11 | rs72672583 | chr14:42643673-42643674 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs142459560 | chr14:42643692-42643693 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 13 | rs58277989 | chr14:42643711-42643712 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs577209686 | chr14:42643758-42643759 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 15 | rs535125207 | chr14:42643772-42643773 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 16 | rs117917879 | chr14:42643783-42643784 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| Disease | PMID | Source |
|---|---|---|
| Esophageal cancer | 21851588 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Thyroid cancer | 19470727 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Immune disease | 21076436 | CNVD |
| Immune disease | 21042300 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
