Variant report
| Variant | nsv1054674 |
|---|---|
| Chromosome Location | chr12:38104736-38452742 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:10)
- LncRNA region (count:4)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:38444829..38445449-chr2:133022690..133023552,2 | MCF-7 | breast: | |
| 2 | chr12:38447143..38447662-chr2:133026232..133026787,2 | MCF-7 | breast: | |
| 3 | chr12:38450015..38451840-chr2:133028967..133030976,3 | MCF-7 | breast: | |
| 4 | chr12:38444306..38445077-chr21:37485779..37486279,2 | MCF-7 | breast: | |
| 5 | chr12:38444870..38446430-chr16:33959034..33960923,3 | MCF-7 | breast: | |
| 6 | chr12:38444870..38446396-chr2:133021688..133023192,2 | K562 | blood: | |
| 7 | chr12:38444806..38446368-chr16:33959419..33960990,2 | MCF-7 | breast: | |
| 8 | chr12:38444597..38445444-chr16:33958723..33959994,4 | MCF-7 | breast: | |
| 9 | chr12:38143553..38144054-chr18:18519761..18520264,2 | MCF-7 | breast: | |
| 10 | chr12:38444887..38445591-chr16:33959228..33959997,3 | MCF-7 | breast: |
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-ALG10B-6 | chr12:38451526-38451849 | NONHSAT027672 |
| 2 | lnc-CPNE8-8 | chr12:38450354-38450755 | NONHSAT027671 |
| 3 | lnc-ALG10B-6 | chr12:38449724-38450322 | NONHSAT027672 |
| 4 | lnc-CPNE8-8 | chr12:38447469-38447570 | NONHSAT027671 |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs77435220 | chr12:38104736-38104737 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs77915541 | chr12:38104745-38104746 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs77574553 | chr12:38104746-38104747 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs540076963 | chr12:38104747-38104748 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs111359583 | chr12:38104751-38104752 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs112957018 | chr12:38104756-38104757 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs528605307 | chr12:38104761-38104762 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs373303789 | chr12:38104763-38104764 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs200281072 | chr12:38104775-38104776 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs200825613 | chr12:38104788-38104789 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs2711540 | chr12:38104798-38104799 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs201800840 | chr12:38104799-38104800 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs530886160 | chr12:38104816-38104817 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs551299880 | chr12:38104825-38104826 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs200367381 | chr12:38104831-38104832 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs113786166 | chr12:38104836-38104837 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs112129282 | chr12:38104840-38104841 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs111604023 | chr12:38104844-38104845 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs111710139 | chr12:38104848-38104849 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs564819358 | chr12:38104855-38104856 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs376480435 | chr12:38104856-38104857 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs546914478 | chr12:38104864-38104865 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs368989785 | chr12:38104866-38104867 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs535210740 | chr12:38104889-38104890 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs561546662 | chr12:38104898-38104899 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs8189627 | chr12:38104907-38104908 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs568512615 | chr12:38104917-38104918 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs375811876 | chr12:38104926-38104927 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs61922482 | chr12:38104931-38104932 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs557320285 | chr12:38104940-38104941 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs577548644 | chr12:38104946-38104947 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs61922483 | chr12:38104948-38104949 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs61922484 | chr12:38104953-38104954 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs542595706 | chr12:38104954-38104955 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs111853142 | chr12:38104960-38104961 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs199617912 | chr12:38104983-38104984 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs191919468 | chr12:38104995-38104996 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs534071167 | chr12:38104997-38104998 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs553707696 | chr12:38104999-38105000 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs113784812 | chr12:38105002-38105003 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs183399791 | chr12:38105012-38105013 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs573748021 | chr12:38105014-38105015 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs200475215 | chr12:38105022-38105023 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs61922485 | chr12:38105023-38105024 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs61922486 | chr12:38105027-38105028 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs111529538 | chr12:38105038-38105039 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs199575552 | chr12:38105045-38105046 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs61922487 | chr12:38105049-38105050 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs200479584 | chr12:38105052-38105053 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs201693709 | chr12:38105059-38105060 | 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 | chr12:38100400-38105600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 2 | chr12:38101200-38106000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 3 | chr12:38101200-38111400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 4 | chr12:38103200-38106400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 5 | chr12:38103200-38111200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 6 | chr12:38105200-38105400 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 7 | chr12:38107200-38126800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 8 | chr12:38107800-38111600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 9 | chr12:38108200-38108600 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 10 | chr12:38108200-38108600 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 11 | chr12:38108200-38108600 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 12 | chr12:38108200-38108600 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 2 | blood |
| 13 | chr12:38108200-38108600 | ZNF genes & repeats | Brain Anterior Caudate | brain |
| 14 | chr12:38108400-38108600 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 15 | chr12:38108400-38108600 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
| 16 | chr12:38108400-38108600 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
| 17 | chr12:38108400-38108600 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 1 | blood |
| 18 | chr12:38108400-38108600 | ZNF genes & repeats | Primary T killer memory cells from peripheral blood | blood |
| 19 | chr12:38108400-38108600 | ZNF genes & repeats | Fetal Brain Male | brain |
| 20 | chr12:38108400-38108800 | Active TSS | Psoas Muscle | Psoas |
| 21 | chr12:38110800-38111200 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 22 | chr12:38111800-38116800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 23 | chr12:38112200-38126200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 24 | chr12:38112400-38129000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 25 | chr12:38114400-38114800 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 26 | chr12:38114400-38115000 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 27 | chr12:38114400-38123000 | Weak transcription | K562 | blood |
| 28 | chr12:38114600-38114800 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 29 | chr12:38114600-38114800 | ZNF genes & repeats | ES-WA7 Cell Line | embryonic stem cell |
| 30 | chr12:38114600-38114800 | Flanking Bivalent TSS/Enh | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 31 | chr12:38114600-38114800 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
| 32 | chr12:38114600-38114800 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
| 33 | chr12:38114600-38114800 | ZNF genes & repeats | Brain Cingulate Gyrus | brain |
| 34 | chr12:38114600-38114800 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
| 35 | chr12:38114600-38114800 | ZNF genes & repeats | Brain Inferior Temporal Lobe | brain |
| 36 | chr12:38114600-38114800 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 37 | chr12:38114600-38114800 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 38 | chr12:38114600-38115000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 39 | chr12:38114800-38116600 | Weak transcription | Brain Substantia Nigra | brain |
| 40 | chr12:38114800-38116800 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 41 | chr12:38114800-38116800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 42 | chr12:38116600-38117000 | Active TSS | Brain Substantia Nigra | brain |
| 43 | chr12:38116600-38117200 | ZNF genes & repeats | HUVEC | blood vessel |
| 44 | chr12:38116800-38117000 | ZNF genes & repeats | A549 | lung |
| 45 | chr12:38116800-38117200 | ZNF genes & repeats | ES-WA7 Cell Line | embryonic stem cell |
| 46 | chr12:38116800-38117200 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 47 | chr12:38116800-38117400 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 48 | chr12:38116800-38119200 | ZNF genes & repeats | HepG2 | liver |
| 49 | chr12:38117000-38119800 | Weak transcription | NH-A | brain |
| 50 | chr12:38118800-38124800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
