Variant report
| Variant | nsv1040069 |
|---|---|
| Chromosome Location | chr12:38081269-38439587 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs528090166 | chr12:38081412-38081413 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs548143395 | chr12:38081420-38081421 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs2703685 | chr12:38081423-38081424 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs2643379 | chr12:38081447-38081448 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs550821181 | chr12:38081448-38081449 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs11531239 | chr12:38081456-38081457 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs539176284 | chr12:38081464-38081465 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs552602159 | chr12:38081467-38081468 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs144559903 | chr12:38081486-38081487 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs190549387 | chr12:38081488-38081489 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs192619914 | chr12:38081492-38081493 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs139150980 | chr12:38081497-38081498 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs2386995 | chr12:38081501-38081502 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs557168977 | chr12:38081504-38081505 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs576524974 | chr12:38081508-38081509 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs146420978 | chr12:38081517-38081518 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs183746059 | chr12:38081530-38081531 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs78894313 | chr12:38081576-38081577 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs188107181 | chr12:38081580-38081581 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs74595770 | chr12:38081582-38081583 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs111787967 | chr12:38081600-38081601 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs375022567 | chr12:38081603-38081604 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs572714318 | chr12:38081607-38081608 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs541830992 | chr12:38081623-38081624 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs368407717 | chr12:38081627-38081628 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs530860935 | chr12:38081628-38081629 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs201944656 | chr12:38081641-38081642 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs200422724 | chr12:38081664-38081665 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs201127568 | chr12:38081665-38081666 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs201927582 | chr12:38081669-38081670 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs550737071 | chr12:38081670-38081671 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs112221251 | chr12:38081674-38081675 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs190078332 | chr12:38081691-38081692 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs200231270 | chr12:38081697-38081698 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs201028796 | chr12:38081704-38081705 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs201730589 | chr12:38081713-38081714 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs372369539 | chr12:38081719-38081720 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs200455918 | chr12:38081720-38081721 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs367840124 | chr12:38081725-38081726 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs564321041 | chr12:38081726-38081727 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs533164571 | chr12:38081755-38081756 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs180915122 | chr12:38081767-38081768 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs181620785 | chr12:38081779-38081780 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs372028436 | chr12:38081787-38081788 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs566180998 | chr12:38081792-38081793 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs201735613 | chr12:38081794-38081795 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs369005875 | chr12:38081800-38081801 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs534683009 | chr12:38081806-38081807 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs199548898 | chr12:38081818-38081819 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs200812630 | chr12:38081825-38081826 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| 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 |
| Cancer | 21272361 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:38081400-38088800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr12:38081600-38097000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 3 | chr12:38082600-38099400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 4 | chr12:38084000-38084800 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 5 | chr12:38084800-38087400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 6 | chr12:38086200-38086400 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 7 | chr12:38087000-38099000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 8 | chr12:38087400-38087600 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 9 | chr12:38087400-38087600 | ZNF genes & repeats | HUVEC | blood vessel |
| 10 | chr12:38088600-38088800 | ZNF genes & repeats | HUVEC | blood vessel |
| 11 | chr12:38090400-38091000 | Active TSS | Aorta | Aorta |
| 12 | chr12:38090800-38093200 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 13 | chr12:38091000-38096800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 14 | chr12:38094000-38094200 | ZNF genes & repeats | HepG2 | liver |
| 15 | chr12:38095600-38099600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 16 | chr12:38096000-38097000 | Active TSS | Aorta | Aorta |
| 17 | chr12:38096200-38096800 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 18 | chr12:38097000-38098800 | Weak transcription | Aorta | Aorta |
| 19 | chr12:38098600-38099200 | ZNF genes & repeats | Liver | Liver |
| 20 | chr12:38100400-38102200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 21 | chr12:38100400-38105600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 22 | chr12:38100600-38102200 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 23 | chr12:38101200-38106000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 24 | chr12:38101200-38111400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 25 | chr12:38101800-38102400 | Active TSS | Aorta | Aorta |
| 26 | chr12:38102200-38103200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 27 | chr12:38103200-38106400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 28 | chr12:38103200-38111200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 29 | chr12:38105200-38105400 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 30 | chr12:38107200-38126800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 31 | chr12:38107800-38111600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 32 | chr12:38108200-38108600 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 33 | chr12:38108200-38108600 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 34 | chr12:38108200-38108600 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 35 | chr12:38108200-38108600 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 2 | blood |
| 36 | chr12:38108200-38108600 | ZNF genes & repeats | Brain Anterior Caudate | brain |
| 37 | chr12:38108400-38108600 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 38 | chr12:38108400-38108600 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
| 39 | chr12:38108400-38108600 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
| 40 | chr12:38108400-38108600 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 1 | blood |
| 41 | chr12:38108400-38108600 | ZNF genes & repeats | Primary T killer memory cells from peripheral blood | blood |
| 42 | chr12:38108400-38108600 | ZNF genes & repeats | Fetal Brain Male | brain |
| 43 | chr12:38108400-38108800 | Active TSS | Psoas Muscle | Psoas |
| 44 | chr12:38110800-38111200 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 45 | chr12:38111800-38116800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 46 | chr12:38112200-38126200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 47 | chr12:38112400-38129000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 48 | chr12:38114400-38114800 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 49 | chr12:38114400-38115000 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 50 | chr12:38114400-38123000 | Weak transcription | K562 | blood |
