Variant report
| Variant | esv3327133 |
|---|---|
| Chromosome Location | chr10:19338953-19339366 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs150877130 | chr10:19338969-19338970 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs534090458 | chr10:19338987-19338988 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs71507275 | chr10:19339001-19339002 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs76597131 | chr10:19339014-19339015 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs569074474 | chr10:19339033-19339034 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs113682640 | chr10:19339034-19339035 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs369752020 | chr10:19339045-19339046 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs112060266 | chr10:19339064-19339065 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs559130879 | chr10:19339072-19339073 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs577395832 | chr10:19339163-19339164 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs536814661 | chr10:19339177-19339178 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs555881184 | chr10:19339197-19339198 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs574092066 | chr10:19339208-19339209 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs11592251 | chr10:19339234-19339235 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs189035606 | chr10:19339254-19339255 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs560148821 | chr10:19339262-19339263 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs527597487 | chr10:19339263-19339264 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs374090989 | chr10:19339289-19339290 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs374593864 | chr10:19339305-19339306 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs545649584 | chr10:19339311-19339312 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs71387039 | chr10:19339318-19339319 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs138295286 | chr10:19339328-19339329 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs116182171 | chr10:19339346-19339347 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:41)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Melanoma | 18172304 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:19335400-19341400 | Active TSS | Duodenum Mucosa | Duodenum |
| 2 | chr10:19335800-19340200 | Active TSS | Fetal Intestine Small | intestine |
| 3 | chr10:19335800-19340400 | Active TSS | Fetal Intestine Large | intestine |
| 4 | chr10:19337800-19340000 | Active TSS | Duodenum Smooth Muscle | Duodenum |
| 5 | chr10:19338400-19341600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
