Variant report
Variant | esv5863 |
---|---|
Chromosome Location | chr14:81468885-81469630 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:9)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:9 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | FOSL2 | chr14:81469049-81469215 | HepG2 | liver: | n/a | n/a |
2 | FOXA2 | chr14:81468892-81469349 | A549 | lung: | n/a | n/a |
3 | PAX5 | chr14:81469066-81469197 | GM12878 | blood: | n/a | n/a |
4 | PBX3 | chr14:81469013-81469183 | GM12878 | blood: | n/a | n/a |
5 | POLR2A | chr14:81469130-81469167 | Hela-S3 | cervix: | n/a | n/a |
6 | REST | chr14:81469086-81469179 | PANC-1 | pancreas: | n/a | n/a |
7 | SIN3AK20 | chr14:81469087-81469177 | HepG2 | liver: | n/a | n/a |
8 | SPI1 | chr14:81469079-81469184 | GM12878 | blood: | n/a | n/a |
9 | USF1 | chr14:81469083-81469185 | HepG2 | liver: | n/a | n/a |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
RPL17P3 | TF binding region |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs555815167 | chr14:81468896-81468897 | Weak transcription Strong transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs187083918 | chr14:81468953-81468954 | Weak transcription Strong transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs4903964 | chr14:81468954-81468955 | Weak transcription Strong transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
4 | rs543697012 | chr14:81469043-81469044 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs200281092 | chr14:81469126-81469127 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs199677500 | chr14:81469128-81469129 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs12889568 | chr14:81469129-81469130 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs201833602 | chr14:81469130-81469131 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs373832725 | chr14:81469152-81469153 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs374950501 | chr14:81469154-81469155 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs56340312 | chr14:81469168-81469169 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs374612939 | chr14:81469169-81469170 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs562190978 | chr14:81469174-81469175 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs534922737 | chr14:81469242-81469243 | Weak transcription Bivalent/Poised TSS Strong transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs577195908 | chr14:81469322-81469323 | Weak transcription Bivalent/Poised TSS Strong transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs7151548 | chr14:81469340-81469341 | Weak transcription Bivalent/Poised TSS Strong transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs55699123 | chr14:81469349-81469350 | Weak transcription Bivalent/Poised TSS Strong transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs190652543 | chr14:81469420-81469421 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs560013050 | chr14:81469426-81469427 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs527334046 | chr14:81469427-81469428 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs548916517 | chr14:81469438-81469439 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs56278849 | chr14:81469456-81469457 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs75887592 | chr14:81469458-81469459 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs531686340 | chr14:81469472-81469473 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs550079915 | chr14:81469496-81469497 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs199943510 | chr14:81469505-81469506 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs539047686 | chr14:81469559-81469560 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs371030518 | chr14:81469560-81469561 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs547738897 | chr14:81469569-81469570 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs566041030 | chr14:81469571-81469572 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs7152373 | chr14:81469592-81469593 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs545163523 | chr14:81469597-81469598 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
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 |
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 |
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 |
Wilms tumour | 21544195 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Breast cancer | 21858162 | CNVD |
Lung cancer | 18438408 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
cataract | 16735990 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 16608533 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Developmental delay | 21147756 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 17603634 | CNVD |
Glioblastoma | 21080181 | CNVD |
Gastric cancer | 16891809 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Cancer | 20164920 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:81455800-81492200 | Weak transcription | Fetal Thymus | thymus |
2 | chr14:81463200-81469000 | Weak transcription | K562 | blood |
3 | chr14:81467000-81470400 | Strong transcription | Dnd41 | blood |
4 | chr14:81468000-81486600 | Weak transcription | Thymus | Thymus |
5 | chr14:81468400-81469600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
6 | chr14:81468400-81472600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
7 | chr14:81469000-81469200 | Bivalent Enhancer | Primary T cells from cord blood | blood |
8 | chr14:81469000-81469200 | Enhancers | Primary hematopoietic stem cells | blood |
9 | chr14:81469000-81469200 | Enhancers | HSMM | muscle |
10 | chr14:81469000-81469200 | Flanking Active TSS | K562 | blood |
11 | chr14:81469200-81469400 | Bivalent/Poised TSS | Primary T cells from cord blood | blood |
12 | chr14:81469200-81469400 | Enhancers | K562 | blood |
13 | chr14:81469400-81470800 | Weak transcription | K562 | blood |
14 | chr14:81469600-81469800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |