Variant report
| Variant | nsv8087 |
|---|---|
| Chromosome Location | chr7:53455148-53464792 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:53460851..53461831-chr9:14244620..14245120,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs370062773 | chr7:53455150-53455151 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs75617366 | chr7:53455155-53455156 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs537660369 | chr7:53455212-53455213 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs185145972 | chr7:53455259-53455260 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs567334778 | chr7:53455296-53455297 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs534715163 | chr7:53455302-53455303 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs56085967 | chr7:53455340-53455341 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs149162896 | chr7:53455344-53455345 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs189852273 | chr7:53455361-53455362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs556960030 | chr7:53455373-53455374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs182845233 | chr7:53455426-53455427 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs536220819 | chr7:53455432-53455433 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs554562266 | chr7:53455443-53455444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs572963268 | chr7:53455467-53455468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs143313224 | chr7:53455482-53455483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs565417202 | chr7:53455499-53455500 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs577347335 | chr7:53455523-53455524 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs151287655 | chr7:53455543-53455544 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs367858925 | chr7:53455566-53455567 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs373343249 | chr7:53455590-53455591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs563012001 | chr7:53455600-53455601 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs2877132 | chr7:53455603-53455604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs548957874 | chr7:53455614-53455615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs77722655 | chr7:53455619-53455620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs62451906 | chr7:53455640-53455641 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs186611482 | chr7:53455656-53455657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs546709580 | chr7:53455683-53455684 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs571161722 | chr7:53455753-53455754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs571355218 | chr7:53455754-53455755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs538434183 | chr7:53455787-53455788 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs550776121 | chr7:53455788-53455789 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs140554654 | chr7:53455815-53455816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs79647747 | chr7:53455833-53455834 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs371029628 | chr7:53455844-53455845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs566515731 | chr7:53455861-53455862 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs116269401 | chr7:53455871-53455872 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs558758243 | chr7:53455876-53455877 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs577287076 | chr7:53455907-53455908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs544443557 | chr7:53455927-53455928 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs556725540 | chr7:53455974-53455975 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs573463137 | chr7:53456019-53456020 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs191309455 | chr7:53456048-53456049 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs542536516 | chr7:53456087-53456088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs183677810 | chr7:53456097-53456098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs372431960 | chr7:53456106-53456107 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs528076740 | chr7:53456109-53456110 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs540252067 | chr7:53456115-53456116 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs187519335 | chr7:53456140-53456141 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs377568765 | chr7:53456244-53456245 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs550463592 | chr7:53456295-53456296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:120)
| Disease | PMID | Source |
|---|---|---|
| Glioblastoma multiforme | 17387387 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Glioma | 21971842 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Oral cancer | 21386901 | CNVD |
| colon cancer | 17210682 | CNVD |
| Lung adenocarcinoma | 21810691 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Hypothalamic hamartomas | 18252217 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Ewing''s sarcoma | 21437220 | 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 |
| Lung cancer | 18438408 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Cancer | 21637783 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Autism | 22495311 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Williams-beuren syndrome | 22470819 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Non-small cell lung cancer | 17643093 | CNVD |
| Ovarian cancer | 18182111 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Glioblastoma multiforme | 17369134 | CNVD |
| Barrett''s esophagus | 18559552 | CNVD |
| head and neck squamous cell carcinoma | 16943533 | CNVD |
| Anaplastic thyroid cancer | 17079354 | CNVD |
| Basal-like breast cancer | 17875215 | CNVD |
| Colorectal cancer | 16882699 | CNVD |
| Colorectal cancer | 18794099 | CNVD |
| Gastrointestinal stromal cancer | 17643098 | CNVD |
| Lung cancer | 18381415 | CNVD |
| Metastatic colorectal cancer | 17664472 | CNVD |
| Non-small cell lung cancer | 19255323 | CNVD |
| Non-small cell lung cancer | 17673923 | CNVD |
| Non-small cell lung cancer | 17975165 | CNVD |
| Non-small cell lung cancer | 19622585 | CNVD |
| Ovarian cancer | 16607561 | CNVD |
| Squamous cell cancer | 19670535 | CNVD |
| head and neck squamous cell carcinoma | 16818711 | CNVD |
| small cell lung cancer | 18829487 | CNVD |
| Breast cancer | 17661082 | CNVD |
| Adenocarcinoma | 19260752 | CNVD |
| Esophageal cancer | 16575012 | CNVD |
| Lung adenocarcinoma | 19138956 | CNVD |
| Lung adenocarcinoma | 18379350 | CNVD |
| Lung adenocarcinoma | 18258923 | CNVD |
| Lung cancer | 19138956 | CNVD |
| Lung cancer | 18379350 | CNVD |
| Lung cancer | 18258923 | CNVD |
| Non-small cell lung cancer | 18304967 | CNVD |
| Non-small cell lung cancer | 19451690 | CNVD |
| Non-small cell lung cancer | 19260752 | CNVD |
| Non-small cell lung cancer | 17079354 | CNVD |
| Non-small cell lung cancer | 18559607 | CNVD |
| Rectal cancer | 19506820 | CNVD |
| Triple-negative breast cancer | 18950515 | CNVD |
| head and neck squamous cell carcinoma | 18813952 | CNVD |
| Non-small cell lung cancer | 17504988 | CNVD |
| Non-small cell lung cancer | 16943533 | CNVD |
| Non-small cell lung cancer | 18509184 | CNVD |
| head and neck squamous cell carcinoma | 17538160 | CNVD |
| Colorectal cancer | 19712476 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Lung cancer | 19671679 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Cognitive impairment | 21505072 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:53448000-53456600 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 2 | chr7:53456600-53456800 | Enhancers | Placenta Amnion | Placenta Amnion |
| 3 | chr7:53456800-53457200 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 4 | chr7:53457200-53457800 | Enhancers | Placenta Amnion | Placenta Amnion |
| 5 | chr7:53464200-53464400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 6 | chr7:53464400-53465000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
