Variant report
| Variant | esv1276404 |
|---|---|
| Chromosome Location | chr7:101456360-101456361 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:4)
- CpG islands (count:0)
- Chromatin interactive region (count:9)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:4 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr7:101456220-101456370 | A549 | lung: | n/a | n/a |
| 2 | MXI1 | chr7:101455708-101459671 | SK-N-SH | brain: | n/a | chr7:101458741-101458750 |
| 3 | POLR2A | chr7:101456274-101456469 | MCF10A-Er-Src | breast: | n/a | n/a |
| 4 | RAD21 | chr7:101455813-101459601 | SK-N-SH | brain: | n/a | chr7:101458932-101458951 chr7:101457347-101457361 chr7:101457573-101457592 chr7:101458924-101458936 chr7:101457575-101457587 |
| No data |
(count:9 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:101451313..101452903-chr7:101455577..101457484,2 | K562 | blood: | |
| 2 | chr7:101456128..101458480-chr7:101471279..101473363,2 | K562 | blood: | |
| 3 | chr7:101330663..101332938-chr7:101456021..101458863,3 | K562 | blood: | |
| 4 | chr7:101454557..101456902-chr9:132258528..132261469,2 | MCF-7 | breast: | |
| 5 | chr7:101338626..101341236-chr7:101455601..101457433,2 | K562 | blood: | |
| 6 | chr7:101455693..101458203-chr7:101915599..101917150,2 | MCF-7 | breast: | |
| 7 | chr7:101454521..101456839-chr7:101502808..101505104,2 | K562 | blood: | |
| 8 | chr1:6267970..6270950-chr7:101455402..101457329,2 | K562 | blood: | |
| 9 | chr7:101456296..101461488-chr7:101913983..101918398,7 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| CUX1 | TF binding region |
| ENSG00000257923 | chromatin interactions |
| ENSG00000158286 | chromatin interactions |
| ENSG00000116251 | chromatin interactions |
| ENSG00000204054 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs397728853 | chr7:101456361-101456362 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:93)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17170743 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Malaria | 21533027 | CNVD |
| Melanoma | 18172304 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Low-grade fibromyxoid sarcoma | 0 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Shwachman-Diamond syndrome | 22934832 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Cutaneous malignant melanoma | 17690212 | CNVD |
| Leukemia | 17361228 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Malignant melanoma | 17690212 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Adenocarcinoma | 19607727 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Emphysema | 19352772 | CNVD |
| Effusion lymphoma | 18079361 | CNVD |
| Medulloblastoma | 17653508 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Autism | 19401682 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| T-cell lymphomas | 22341440 | CNVD |
| Cancer | 19907438 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Melanoma | 20877625 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:101436800-101457400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr7:101448400-101456800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 3 | chr7:101452600-101457000 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
| 4 | chr7:101453200-101456800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 5 | chr7:101453600-101456800 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 6 | chr7:101453600-101456800 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 7 | chr7:101453600-101456800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 8 | chr7:101453600-101457000 | Weak transcription | HMEC | breast |
| 9 | chr7:101453800-101456800 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 10 | chr7:101456000-101457000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 11 | chr7:101456200-101456800 | Enhancers | A549 | lung |
| 12 | chr7:101456200-101456800 | Enhancers | Hela-S3 | cervix |
