Variant report
| Variant | esv1003570 |
|---|---|
| Chromosome Location | chr7:66298899-66302713 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:207)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:66302070..66304968-chr7:66306621..66309380,3 | MCF-7 | breast: | |
| 2 | chr7:66301720..66302584-chr7:66359647..66360430,2 | MCF-7 | breast: | |
| 3 | chr7:66301118..66302840-chr7:66307414..66309903,3 | MCF-7 | breast: | |
| 4 | chr7:66298677..66300616-chr7:66305358..66307359,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| GTF2IRD1P1 | TF binding region |
| ENSG00000230583 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs567430155 | chr7:66298956-66298957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs554624527 | chr7:66298967-66298968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs368891908 | chr7:66298979-66298980 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs376597036 | chr7:66299043-66299044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs540338153 | chr7:66299053-66299054 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs189880460 | chr7:66299089-66299090 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs577014363 | chr7:66299100-66299101 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs62465695 | chr7:66299112-66299113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs149584736 | chr7:66299115-66299116 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs62465696 | chr7:66299121-66299122 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs555954538 | chr7:66299131-66299132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs562836175 | chr7:66299132-66299133 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs531517677 | chr7:66299158-66299159 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs144269750 | chr7:66299206-66299207 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs181459165 | chr7:66299216-66299217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs530096369 | chr7:66299252-66299253 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs546731741 | chr7:66299257-66299258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs207468005 | chr7:66299275-66299276 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs566951440 | chr7:66299300-66299301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs532772528 | chr7:66299311-66299312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs552509054 | chr7:66299333-66299334 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs569502861 | chr7:66299370-66299371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs371559708 | chr7:66299372-66299373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs13309361 | chr7:66299375-66299376 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs13223449 | chr7:66299382-66299383 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs376202203 | chr7:66299393-66299394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs554563187 | chr7:66299394-66299395 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs13308165 | chr7:66299405-66299406 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs13223456 | chr7:66299406-66299407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs13223457 | chr7:66299407-66299408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs4718417 | chr7:66299408-66299409 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 32 | rs207468006 | chr7:66299445-66299446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs13222745 | chr7:66299446-66299447 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs553859997 | chr7:66299538-66299539 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs576946636 | chr7:66299574-66299575 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs539586217 | chr7:66299576-66299577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs556107173 | chr7:66299577-66299578 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs113940628 | chr7:66299613-66299614 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs374030434 | chr7:66299616-66299617 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs186930483 | chr7:66299647-66299648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs117878257 | chr7:66299651-66299652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs532162422 | chr7:66299731-66299732 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs560939491 | chr7:66299742-66299743 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs571987142 | chr7:66299764-66299765 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs574541804 | chr7:66299788-66299789 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs377014782 | chr7:66299853-66299854 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs540352265 | chr7:66299878-66299879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs572297821 | chr7:66299952-66299953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs560794479 | chr7:66299956-66299957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs191730075 | chr7:66300022-66300023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:82)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| 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 |
| 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 |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 22495311 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Williams-beuren syndrome | 22470819 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Cancer | 21183584 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Hodgkin''s lymphoma | 18641027 | 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 |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Cancer | 20164920 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Schizophrenia | 21346763 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Lung cancer | 21911935 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:66297600-66309000 | Weak transcription | Right Atrium | heart |
| 2 | chr7:66301600-66302800 | Active TSS | Spleen | Spleen |
