Variant report
| Variant | esv2761123 |
|---|---|
| Chromosome Location | chr7:16024878-16025508 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs373059157 | chr7:16024893-16024894 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs148337578 | chr7:16025021-16025022 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs532027655 | chr7:16025028-16025029 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs548939817 | chr7:16025046-16025047 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs566256083 | chr7:16025049-16025050 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs533526915 | chr7:16025165-16025166 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs77511095 | chr7:16025168-16025169 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs187714787 | chr7:16025193-16025194 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs537752829 | chr7:16025198-16025199 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs556282327 | chr7:16025199-16025200 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs11769915 | chr7:16025206-16025207 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs191330368 | chr7:16025277-16025278 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs183210717 | chr7:16025321-16025322 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs572588306 | chr7:16025338-16025339 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs13234986 | chr7:16025340-16025341 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 16 | rs561132515 | chr7:16025342-16025343 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs539567332 | chr7:16025365-16025366 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs576638787 | chr7:16025370-16025371 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs112889833 | chr7:16025387-16025388 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs377766903 | chr7:16025397-16025398 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs79742049 | chr7:16025415-16025416 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs77350479 | chr7:16025416-16025417 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs141442556 | chr7:16025429-16025430 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs187479977 | chr7:16025453-16025454 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs28503776 | chr7:16025455-16025456 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs370232566 | chr7:16025459-16025460 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs546260444 | chr7:16025464-16025465 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs527403545 | chr7:16025499-16025500 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:84)
| Disease | PMID | Source |
|---|---|---|
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Cancer | 16751803 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Glioma | 21971842 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | 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 |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Leukemia | 23979775 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Autism | 22495311 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Melanoma | 17363583 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Autism | 18414403 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Pleomorphic liposarcoma | 18784837 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Cancer | 21637783 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Heart disease | 21282601 | CNVD |
| Rubinstein-Taybi syndrome | 22470819 | CNVD |
| Alzheimer''s disease | 22166940 | CNVD |
| Abnormal phenotypes | 18644119 | CNVD |
| Non-syndromic sensorineural hearing loss | 22570644 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Cancer | 21183584 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:16024400-16026600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr7:16024400-16027000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 3 | chr7:16024600-16025800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 4 | chr7:16024600-16026000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 5 | chr7:16024600-16027000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 6 | chr7:16024800-16025600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 7 | chr7:16024800-16027000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 8 | chr7:16024800-16027200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 9 | chr7:16025400-16025600 | Enhancers | NHDF-Ad | bronchial |
