Variant report
| Variant | nsv898988 |
|---|---|
| Chromosome Location | chr12:38060004-38410687 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
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| No data |
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| Variant related genes | Relation type |
|---|---|
| ENSG00000175548 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs150341131 | chr12:38060200-38060201 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs138046047 | chr12:38060201-38060202 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs551285679 | chr12:38060209-38060210 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs571169038 | chr12:38060215-38060216 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs539745728 | chr12:38060224-38060225 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs532878985 | chr12:38060237-38060238 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs77823951 | chr12:38060244-38060245 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs115163232 | chr12:38060252-38060253 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs183416652 | chr12:38060253-38060254 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs143473256 | chr12:38060262-38060263 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs12369089 | chr12:38060263-38060264 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs557336394 | chr12:38060268-38060269 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs551260932 | chr12:38060277-38060278 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs185057608 | chr12:38060283-38060284 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs540173672 | chr12:38060287-38060288 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs111489723 | chr12:38060316-38060317 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs370705091 | chr12:38060341-38060342 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs567893234 | chr12:38060353-38060354 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs560267447 | chr12:38060364-38060365 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs189525381 | chr12:38060365-38060366 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs114444325 | chr12:38060366-38060367 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs182604645 | chr12:38060367-38060368 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs569554788 | chr12:38060375-38060376 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs550945856 | chr12:38060376-38060377 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs147168578 | chr12:38060382-38060383 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs140285909 | chr12:38060383-38060384 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs188156965 | chr12:38060385-38060386 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs367750778 | chr12:38060391-38060392 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs142722074 | chr12:38060392-38060393 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs530345904 | chr12:38060398-38060399 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs535694264 | chr12:38060399-38060400 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs115106657 | chr12:38060403-38060404 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs192762661 | chr12:38060415-38060416 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs537558772 | chr12:38060417-38060418 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs557703155 | chr12:38060423-38060424 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs183602269 | chr12:38060432-38060433 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs74405899 | chr12:38060439-38060440 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs187656237 | chr12:38060443-38060444 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs142464100 | chr12:38060446-38060447 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs554266817 | chr12:38060453-38060454 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs566154238 | chr12:38060457-38060458 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs573770030 | chr12:38060465-38060466 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs111924095 | chr12:38060498-38060499 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs11495518 | chr12:38060505-38060506 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 45 | rs79242602 | chr12:38060510-38060511 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs544458124 | chr12:38060511-38060512 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs555746190 | chr12:38060518-38060519 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs533196838 | chr12:38060536-38060537 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs547266101 | chr12:38060540-38060541 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs35759720 | chr12:38060543-38060544 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Autism | 20858243 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Osteosarcoma | 21215367 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:38060200-38063400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 2 | chr12:38061000-38075600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr12:38063400-38068400 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 4 | chr12:38063600-38067800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 5 | chr12:38063800-38076600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 6 | chr12:38065800-38076400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 7 | chr12:38066800-38067600 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 8 | chr12:38066800-38067600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 9 | chr12:38066800-38067600 | ZNF genes & repeats | Liver | Liver |
| 10 | chr12:38066800-38067600 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 11 | chr12:38067000-38067400 | ZNF genes & repeats | Fetal Brain Male | brain |
| 12 | chr12:38067000-38067600 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 1 | blood |
| 13 | chr12:38067200-38067600 | Enhancers | Aorta | Aorta |
| 14 | chr12:38067600-38070000 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 15 | chr12:38069800-38072200 | Weak transcription | K562 | blood |
| 16 | chr12:38070000-38070400 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 17 | chr12:38070000-38072600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 18 | chr12:38070400-38070800 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 19 | chr12:38071400-38075800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 20 | chr12:38074400-38074800 | Active TSS | Fetal Heart | heart |
| 21 | chr12:38075400-38075800 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
| 22 | chr12:38081400-38088800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 23 | chr12:38081600-38097000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 24 | chr12:38082600-38099400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 25 | chr12:38084000-38084800 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 26 | chr12:38084800-38087400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 27 | chr12:38086200-38086400 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 28 | chr12:38087000-38099000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 29 | chr12:38087400-38087600 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 30 | chr12:38087400-38087600 | ZNF genes & repeats | HUVEC | blood vessel |
| 31 | chr12:38088600-38088800 | ZNF genes & repeats | HUVEC | blood vessel |
| 32 | chr12:38090400-38091000 | Active TSS | Aorta | Aorta |
| 33 | chr12:38090800-38093200 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 34 | chr12:38091000-38096800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 35 | chr12:38094000-38094200 | ZNF genes & repeats | HepG2 | liver |
| 36 | chr12:38095600-38099600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 37 | chr12:38096000-38097000 | Active TSS | Aorta | Aorta |
| 38 | chr12:38096200-38096800 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 39 | chr12:38097000-38098800 | Weak transcription | Aorta | Aorta |
| 40 | chr12:38098600-38099200 | ZNF genes & repeats | Liver | Liver |
| 41 | chr12:38100400-38102200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 42 | chr12:38100400-38105600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 43 | chr12:38100600-38102200 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 44 | chr12:38101200-38106000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 45 | chr12:38101200-38111400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 46 | chr12:38101800-38102400 | Active TSS | Aorta | Aorta |
| 47 | chr12:38102200-38103200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 48 | chr12:38103200-38106400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 49 | chr12:38103200-38111200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 50 | chr12:38105200-38105400 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
