Variant report
| Variant | esv1356664 |
|---|---|
| Chromosome Location | chr10:43866935-43866936 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:15)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:15 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | BHLHE40 | chr10:43866925-43867233 | K562 | blood: | n/a | n/a |
| 2 | E2F6 | chr10:43866923-43867148 | K562 | blood: | n/a | n/a |
| 3 | FOXA2 | chr10:43866690-43867040 | A549 | lung: | n/a | n/a |
| 4 | JUN | chr10:43866846-43867413 | K562 | blood: | n/a | n/a |
| 5 | MAX | chr10:43866935-43867171 | K562 | blood: | n/a | chr10:43867066-43867077 chr10:43867068-43867075 chr10:43867067-43867076 chr10:43867066-43867076 |
| 6 | MAX | chr10:43866904-43867282 | K562 | blood: | n/a | chr10:43867066-43867077 chr10:43867068-43867075 chr10:43867067-43867076 chr10:43867066-43867076 |
| 7 | MAX | chr10:43866896-43867253 | K562 | blood: | n/a | chr10:43867066-43867077 chr10:43867068-43867075 chr10:43867067-43867076 chr10:43867066-43867076 |
| 8 | MYC | chr10:43866923-43867298 | K562 | blood: | n/a | chr10:43867066-43867077 chr10:43867068-43867075 chr10:43867067-43867076 chr10:43867066-43867076 |
| 9 | POLR2A | chr10:43866870-43867430 | MCF-7 | breast: | n/a | n/a |
| 10 | SIN3AK20 | chr10:43866879-43867177 | K562 | blood: | n/a | n/a |
| 11 | TCF7L2 | chr10:43866930-43867342 | Hela-S3 | cervix: | n/a | n/a |
| 12 | USF1 | chr10:43866914-43867182 | K562 | blood: | n/a | n/a |
| 13 | ZBTB7A | chr10:43866848-43867076 | K562 | blood: | n/a | n/a |
| 14 | ZBTB7A | chr10:43866849-43867113 | K562 | blood: | n/a | n/a |
| 15 | ZNF384 | chr10:43866895-43867123 | K562 | blood: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr10:43858596..43860755-chr10:43865023..43867031,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| FXYD4 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs61366158 | chr10:43866935-43866936 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs398013320 | chr10:43866936-43866937 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 18414403 | CNVD |
| Cockayne syndrome | 18421352 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Cancer | 21183584 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Glioma | 21971842 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Intellectual disability | 21811512 | CNVD |
| Papillary thyroid carcinoma | 21436994 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Obesity | 21956041 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21948486 | CNVD |
| Dysmorphic features | 21948486 | CNVD |
| Epilepsy | 21948486 | CNVD |
| Breast cancer | 21509527 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:43858600-43891000 | Weak transcription | Right Atrium | heart |
| 2 | chr10:43861200-43872400 | Weak transcription | Fetal Intestine Small | intestine |
| 3 | chr10:43866400-43867000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 4 | chr10:43866400-43870400 | Enhancers | Brain Inferior Temporal Lobe | brain |
