Variant report
| Variant | nsv1020445 |
|---|---|
| Chromosome Location | chr9:21464962-21524162 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:737)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:10)
- Mature miRNA region (count: 2)
- miRNA target sites (count:0)
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | BCL3 | chr9:21499921-21500395 | A549 | lung: | n/a | n/a |
| 2 | BCL3 | chr9:21508689-21509632 | A549 | lung: | n/a | n/a |
| 3 | BCL3 | chr9:21503475-21506429 | A549 | lung: | n/a | chr9:21506204-21506213 |
| 4 | BCL3 | chr9:21501331-21508410 | A549 | lung: | n/a | chr9:21506204-21506213 |
| 5 | BCL3 | chr9:21501977-21502583 | A549 | lung: | n/a | n/a |
| 6 | BCL3 | chr9:21506616-21507704 | A549 | lung: | n/a | n/a |
| 7 | BCL3 | chr9:21500520-21501100 | A549 | lung: | n/a | n/a |
| 8 | BCL3 | chr9:21519608-21520690 | A549 | lung: | n/a | chr9:21519928-21519937 |
| 9 | BCL3 | chr9:21499752-21501285 | A549 | lung: | n/a | n/a |
| 10 | BCL3 | chr9:21498490-21499615 | A549 | lung: | n/a | n/a |
| 11 | CBX3 | chr9:21522147-21524471 | HCT-116 | colon: | n/a | n/a |
| 12 | CBX3 | chr9:21520811-21522028 | HCT-116 | colon: | n/a | n/a |
| 13 | CBX3 | chr9:21519763-21526025 | HCT-116 | colon: | n/a | n/a |
| 14 | CBX3 | chr9:21465829-21466378 | HCT-116 | colon: | n/a | n/a |
| 15 | CEBPB | chr9:21513524-21513835 | IMR90 | lung: | n/a | n/a |
| 16 | CEBPB | chr9:21519283-21525730 | HCT-116 | colon: | n/a | n/a |
| 17 | CEBPB | chr9:21506792-21507249 | IMR90 | lung: | n/a | n/a |
| 18 | CEBPB | chr9:21506801-21507249 | Hela-S3 | cervix: | n/a | n/a |
| 19 | CEBPB | chr9:21478670-21478870 | A549 | lung: | n/a | chr9:21478675-21478688 |
| 20 | CEBPB | chr9:21519556-21521968 | HCT-116 | colon: | n/a | n/a |
| 21 | CEBPB | chr9:21493662-21493841 | A549 | lung: | n/a | n/a |
| 22 | CEBPB | chr9:21506492-21507694 | HCT-116 | colon: | n/a | chr9:21507245-21507257 |
| 23 | CEBPB | chr9:21501197-21501480 | A549 | lung: | n/a | n/a |
| 24 | CEBPB | chr9:21495325-21495569 | A549 | lung: | n/a | n/a |
| 25 | CEBPB | chr9:21495286-21495543 | HepG2 | liver: | n/a | n/a |
| 26 | CEBPB | chr9:21495278-21495540 | IMR90 | lung: | n/a | n/a |
| 27 | CTCF | chr9:21465733-21465851 | GM19238 | blood: | n/a | n/a |
| 28 | CTCF | chr9:21465981-21466235 | LNCaP | prostate: | n/a | chr9:21466105-21466123 chr9:21466107-21466128 chr9:21466106-21466122 chr9:21466108-21466121 |
| 29 | CTCF | chr9:21466020-21466170 | Hela-S3 | cervix: | n/a | chr9:21466105-21466123 chr9:21466107-21466128 chr9:21466106-21466122 chr9:21466108-21466121 |
| 30 | CTCF | chr9:21473300-21473450 | Caco-2 | colon: | n/a | chr9:21473366-21473387 |
| 31 | CTCF | chr9:21473280-21473430 | Hela-S3 | cervix: | n/a | chr9:21473366-21473387 |
| 32 | CTCF | chr9:21491760-21491910 | HA-sp | spinal cord: | n/a | n/a |
| 33 | CTCF | chr9:21479260-21479410 | SAEC | small airway: | n/a | n/a |
| 34 | CTCF | chr9:21465956-21465972 | Fibrobl | skin: | n/a | n/a |
| 35 | CTCF | chr9:21473320-21473470 | HCM | heart: | n/a | chr9:21473366-21473387 |
| 36 | CTCF | chr9:21473260-21473410 | HA-sp | spinal cord: | n/a | chr9:21473366-21473387 |
| 37 | CTCF | chr9:21465560-21465710 | NHLF | lung: | n/a | n/a |
| 38 | CTCF | chr9:21466020-21466170 | AG10803 | skin: | n/a | chr9:21466105-21466123 chr9:21466107-21466128 chr9:21466106-21466122 chr9:21466108-21466121 |
| 39 | CTCF | chr9:21466016-21466213 | HepG2 | liver: | n/a | chr9:21466105-21466123 chr9:21466107-21466128 chr9:21466106-21466122 chr9:21466108-21466121 |
| 40 | CTCF | chr9:21466020-21466170 | NB4 | blood: | n/a | chr9:21466105-21466123 chr9:21466107-21466128 chr9:21466106-21466122 chr9:21466108-21466121 |
| 41 | CTCF | chr9:21465980-21466130 | GM12871 | blood: | n/a | chr9:21466105-21466123 chr9:21466107-21466128 chr9:21466106-21466122 chr9:21466108-21466121 |
| 42 | CTCF | chr9:21466040-21466190 | HVMF | connective: | n/a | chr9:21466105-21466123 chr9:21466107-21466128 chr9:21466106-21466122 chr9:21466108-21466121 |
| 43 | CTCF | chr9:21466060-21466210 | HPF | lung: | n/a | chr9:21466105-21466123 chr9:21466107-21466128 chr9:21466106-21466122 chr9:21466108-21466121 |
| 44 | CTCF | chr9:21473280-21473430 | HRPEpiC | eye: | n/a | chr9:21473366-21473387 |
| 45 | CTCF | chr9:21465860-21466010 | WI-38 | lung: | n/a | n/a |
| 46 | CTCF | chr9:21466040-21466190 | AG04450 | lung: | n/a | chr9:21466105-21466123 chr9:21466107-21466128 chr9:21466106-21466122 chr9:21466108-21466121 |
| 47 | CTCF | chr9:21491840-21491990 | AG10803 | skin: | n/a | chr9:21491933-21491954 |
| 48 | CTCF | chr9:21466020-21466170 | HRE | kidney: | n/a | chr9:21466105-21466123 chr9:21466107-21466128 chr9:21466106-21466122 chr9:21466108-21466121 |
| 49 | CTCF | chr9:21473340-21473490 | GM12865 | blood: | n/a | chr9:21473366-21473387 |
| 50 | CTCF | chr9:21465340-21465490 | GM12875 | blood: | n/a | n/a |
| No data |
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr9:21492643..21493283-chr9:21789425..21789929,2 | MCF-7 | breast: | |
| 2 | chr9:21491433..21492444-chr9:21789127..21790263,7 | MCF-7 | breast: | |
| 3 | chr11:61583818..61584553-chr9:21518322..21519322,2 | HCT-116 | colon: | |
| 4 | chr9:21465639..21466595-chr9:21789434..21790168,4 | MCF-7 | breast: | |
| 5 | chr9:21464451..21467378-chr9:21800569..21802345,2 | MCF-7 | breast: | |
| 6 | chr9:21496297..21498448-chr9:21802383..21804700,2 | MCF-7 | breast: | |
| 7 | chr9:21465480..21466871-chr9:21788898..21790282,6 | MCF-7 | breast: | |
| 8 | chr14:68668658..68669180-chr9:21520044..21520625,2 | HCT-116 | colon: |
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-IFNE-1 | chr9:21477168-21477291 | ENSG00000171889 |
| 2 | lnc-IFNE-1 | chr9:21476873-21477034 | NONHSAT130389 |
| 3 | lnc-IFNE-1 | chr9:21477168-21477291 | NONHSAT130385 |
| 4 | lnc-IFNE-1 | chr9:21477168-21477292 | NONHSAT130389 |
| 5 | lnc-IFNE-1 | chr9:21476898-21477034 | NONHSAT130386 |
| 6 | lnc-IFNE-1 | chr9:21476898-21477034 | NONHSAT130385 |
| 7 | lnc-IFNE-1 | chr9:21476898-21477034 | ENSG00000171889 |
| 8 | lnc-IFNE-1 | chr9:21477168-21477292 | NONHSAT130388 |
| 9 | lnc-IFNE-1 | chr9:21476898-21477034 | NONHSAT130388 |
| 10 | lnc-IFNE-1 | chr9:21477168-21477291 | NONHSAT130386 |
| miRNA name | Chromosome Location | mirBase accession |
|---|---|---|
| hsa-miR-31-3p | chr9:21512120-21512141 | MIMAT0004504 |
| hsa-miR-31-5p | chr9:21512157-21512177 | MIMAT0000089 |
| No data |
| Variant related genes | Relation type |
|---|---|
| MIR31 | TF binding region |
| IFNE | TF binding region |
| ENSG00000264545 | chromatin interactions |
| ENSG00000099810 | chromatin interactions |
| ENSG00000149485 | chromatin interactions |
| ENSG00000134824 | chromatin interactions |
| NFAT5 | Mature miRNA region |
| STK40 | Mature miRNA region |
| NOP56 | Mature miRNA region |
| DMD | Mature miRNA region |
| ARL6IP5 | Mature miRNA region |
| HIST1H2BK | Mature miRNA region |
| EXOSC5 | Mature miRNA region |
| RANGAP1 | Mature miRNA region |
| LRRC59 | Mature miRNA region |
| EDC3 | Mature miRNA region |
| NOL9 | Mature miRNA region |
| CDK1 | Mature miRNA region |
| DACT3 | Mature miRNA region |
| DKK1 | Mature miRNA region |
| DBR1 | Mature miRNA region |
| ZNF275 | Mature miRNA region |
| RPS7 | Mature miRNA region |
| DDX19A | Mature miRNA region |
| PPP2R2A | Mature miRNA region |
| ETS1 | Mature miRNA region |
| TNRC6B | Mature miRNA region |
| NUS1 | Mature miRNA region |
| RASA1 | Mature miRNA region |
| SRRM2 | Mature miRNA region |
| NUMB | Mature miRNA region |
| SMEK2 | Mature miRNA region |
| ATP2A2 | Mature miRNA region |
| RPS4Y1 | Mature miRNA region |
| YY1 | Mature miRNA region |
| RDX | Mature miRNA region |
| PTPRJ | Mature miRNA region |
| XK | Mature miRNA region |
| TRRAP | Mature miRNA region |
| PEX19 | Mature miRNA region |
| PRKCE | Mature miRNA region |
| SLC9A6 | Mature miRNA region |
| PCSK1N | Mature miRNA region |
| NDFIP2 | Mature miRNA region |
| PPP2R5C | Mature miRNA region |
| HIF1AN | Mature miRNA region |
| TXNDC5 | Mature miRNA region |
| AGO1 | Mature miRNA region |
| RET | Mature miRNA region |
| RPL37A | Mature miRNA region |
| FZD3 | Mature miRNA region |
| PPIL2 | Mature miRNA region |
| RICTOR | Mature miRNA region |
| GHITM | Mature miRNA region |
| HEATR2 | Mature miRNA region |
| MMP16 | Mature miRNA region |
| ILF2 | Mature miRNA region |
| TNKS2 | Mature miRNA region |
| FLNA | Mature miRNA region |
| INHBA | Mature miRNA region |
| FAM134C | Mature miRNA region |
| MYO1D | Mature miRNA region |
| ICAM1 | Mature miRNA region |
| ZC3H12C | Mature miRNA region |
| CYP27B1 | Mature miRNA region |
| CREG1 | Mature miRNA region |
| AKAP8L | Mature miRNA region |
| RPA1 | Mature miRNA region |
| SATB2 | Mature miRNA region |
| MET | Mature miRNA region |
| STOML2 | Mature miRNA region |
| HOXA7 | Mature miRNA region |
| RAN | Mature miRNA region |
| FOXP3 | Mature miRNA region |
| DNAJC5 | Mature miRNA region |
| TRIB3 | Mature miRNA region |
| GYG1 | Mature miRNA region |
| MPRIP | Mature miRNA region |
| ARPC5 | Mature miRNA region |
| C1orf198 | Mature miRNA region |
| TIAM1 | Mature miRNA region |
| LATS2 | Mature miRNA region |
| NUP188 | Mature miRNA region |
| JAZF1 | Mature miRNA region |
| SFXN1 | Mature miRNA region |
| ZC3H18 | Mature miRNA region |
| HIST1H2BJ | Mature miRNA region |
| KLF13 | Mature miRNA region |
| CXCL12 | Mature miRNA region |
| MCM2 | Mature miRNA region |
| EXOC6 | Mature miRNA region |
| C2CD5 | Mature miRNA region |
| ACADVL | Mature miRNA region |
| MCM4 | Mature miRNA region |
| CIPC | Mature miRNA region |
| HOXC13 | Mature miRNA region |
| MED12 | Mature miRNA region |
| UBA6 | Mature miRNA region |
| MLH1 | Mature miRNA region |
| NFATC2IP | Mature miRNA region |
| ITGA5 | Mature miRNA region |
| HIST1H2BI | Mature miRNA region |
| CASR | Mature miRNA region |
| GLI2 | Mature miRNA region |
| RHOA | Mature miRNA region |
| SELE | Mature miRNA region |
| PPIA | Mature miRNA region |
| EEF1A1 | miRNA target sites |
| RPP40 | miRNA target sites |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs552957709 | chr9:21464993-21464994 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs566565772 | chr9:21465000-21465001 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs183177604 | chr9:21465101-21465102 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs7034161 | chr9:21465117-21465118 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs187859032 | chr9:21465118-21465119 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs7468406 | chr9:21465121-21465122 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs536868373 | chr9:21465130-21465131 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs557194668 | chr9:21465147-21465148 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs577068050 | chr9:21465151-21465152 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs545777102 | chr9:21465165-21465166 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs7848009 | chr9:21465196-21465197 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs559383153 | chr9:21465199-21465200 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs192435098 | chr9:21465284-21465285 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs554490913 | chr9:21465336-21465337 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs150468587 | chr9:21465337-21465338 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs561641186 | chr9:21465340-21465341 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs531103188 | chr9:21465352-21465353 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs550895672 | chr9:21465365-21465366 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs572635669 | chr9:21465379-21465380 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs576543728 | chr9:21465384-21465385 | Weak transcription Strong transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs116354460 | chr9:21465404-21465405 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs533434951 | chr9:21465470-21465471 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs7862040 | chr9:21465478-21465479 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs554766393 | chr9:21465489-21465490 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs566505442 | chr9:21465561-21465562 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs535490298 | chr9:21465587-21465588 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs549423466 | chr9:21465588-21465589 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs569275471 | chr9:21465599-21465600 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs537203710 | chr9:21465643-21465644 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs74742962 | chr9:21465654-21465655 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs376826864 | chr9:21465660-21465661 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs1412397 | chr9:21465678-21465679 | Weak transcription Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 33 | rs60931924 | chr9:21465734-21465735 | Weak transcription Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 34 | rs572840066 | chr9:21465751-21465752 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs541480869 | chr9:21465774-21465775 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs201265162 | chr9:21465788-21465789 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs368052045 | chr9:21465831-21465832 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs561773591 | chr9:21465848-21465849 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs575252210 | chr9:21465859-21465860 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs115142276 | chr9:21465909-21465910 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs138533292 | chr9:21465912-21465913 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs144131313 | chr9:21465915-21465916 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs546874127 | chr9:21465940-21465941 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs147346067 | chr9:21465956-21465957 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs529221937 | chr9:21465960-21465961 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs371672852 | chr9:21466026-21466027 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs371076197 | chr9:21466040-21466041 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs554229904 | chr9:21466042-21466043 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs572549065 | chr9:21466053-21466054 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs183263833 | chr9:21466057-21466058 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:158)
| Disease | PMID | Source |
|---|---|---|
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Melanoma | 18172304 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myopathy | 18421352 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Acute lymphoblastic leukemia | 18957548 | CNVD |
| Myeloproliferative neoplasm | 17564968 | CNVD |
| Malignant meningioma | 17937814 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Glioma | 21971842 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Cancer | 20164919 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Oral cancer | 21386901 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Autism | 22495311 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Pilocytic astrocytoma | 18670637 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Melanoma | 22183965 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Cancer | 22183965 | CNVD |
| Glioblastoma multiforme | 21569311 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Glioblastoma multiforme | 19435819 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Glioblastoma multiforme | 22291905 | CNVD |
| Lung cancer | 21911935 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| head and neck squamous cell carcinoma | 21798897 | CNVD |
| Cancer | 21253487 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Intracranial ependymoma | 16609018 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Glioma | 17123091 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Acute lymphoblastic leukemia | 19100363 | CNVD |
| Acute lymphoblastic leukemia | 18768390 | CNVD |
| Leukemia | 19602459 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Leukemia | 18688285 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| Coronary Disease | 20032323 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21732550 | CNVD |
| Gastric cancer | 22539939 | CNVD |
| Cancer | 21183584 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Metastatic melanoma | 18483359 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Glioblastoma | 17090523 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Melanoma | 16977458 | CNVD |
| Glioblastoma multiforme | 17369134 | CNVD |
| Chagasic megaesophagus | 20163722 | CNVD |
| Melanoma | 19566914 | CNVD |
| Squamous cell cancer | 19047905 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| Glioma | 20126413 | CNVD |
| Melanoma | 17363583 | CNVD |
| Glioblastoma multiforme | 19115005 | CNVD |
| Glioblastoma multiforme | 21525872 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Adenoid cystic carcinoma | 18332873 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20581869 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Oral cancer | 22144094 | CNVD |
| Lung cancer | 21569311 | CNVD |
| Epilepsy | 20502679 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 20858261 | CNVD |
| Epilepsy | 20858261 | CNVD |
| Mental retardation | 20858261 | CNVD |
| Chronic lymphocytic leukemia | 21215367 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Cancer | 20164920 | CNVD |
| Non-small cell lung cancer | 16651412 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:21454800-21474400 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 2 | chr9:21454800-21481600 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 3 | chr9:21455200-21481000 | Weak transcription | NHDF-Ad | bronchial |
| 4 | chr9:21455800-21481000 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 5 | chr9:21456000-21465000 | Weak transcription | NHEK | skin |
| 6 | chr9:21456000-21465400 | Weak transcription | HMEC | breast |
| 7 | chr9:21456000-21476600 | Weak transcription | NHLF | lung |
| 8 | chr9:21461400-21466200 | Strong transcription | NH-A | brain |
| 9 | chr9:21462000-21466000 | Strong transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 10 | chr9:21462400-21466000 | Strong transcription | Muscle Satellite Cultured Cells | -- |
| 11 | chr9:21462600-21466000 | Strong transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 12 | chr9:21462600-21466800 | Strong transcription | Osteobl | bone |
| 13 | chr9:21462600-21474600 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 14 | chr9:21463000-21502200 | Weak transcription | HSMM | muscle |
| 15 | chr9:21463200-21465200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 16 | chr9:21463200-21465800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 17 | chr9:21463200-21466000 | Strong transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 18 | chr9:21464000-21465200 | ZNF genes & repeats | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 19 | chr9:21464800-21466000 | Strong transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 20 | chr9:21465000-21465200 | ZNF genes & repeats | A549 | lung |
| 21 | chr9:21465000-21465800 | Strong transcription | NHEK | skin |
| 22 | chr9:21465200-21465400 | ZNF genes & repeats | Breast Myoepithelial Primary Cells | Breast |
| 23 | chr9:21465200-21465800 | Strong transcription | A549 | lung |
| 24 | chr9:21465200-21466000 | Strong transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 25 | chr9:21465200-21468600 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 26 | chr9:21465400-21465800 | Strong transcription | HMEC | breast |
| 27 | chr9:21465400-21474600 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 28 | chr9:21465600-21465800 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 29 | chr9:21465800-21467400 | Weak transcription | A549 | lung |
| 30 | chr9:21465800-21467400 | Weak transcription | NHEK | skin |
| 31 | chr9:21465800-21468000 | Weak transcription | HMEC | breast |
| 32 | chr9:21466000-21467400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 33 | chr9:21466000-21467600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 34 | chr9:21466000-21467800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 35 | chr9:21466000-21470200 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 36 | chr9:21466000-21473600 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 37 | chr9:21466000-21527600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 38 | chr9:21466200-21467000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 39 | chr9:21466200-21471400 | Weak transcription | NH-A | brain |
| 40 | chr9:21466400-21471000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 41 | chr9:21466800-21467400 | Weak transcription | Osteobl | bone |
| 42 | chr9:21467000-21478600 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 43 | chr9:21467400-21468000 | Strong transcription | Osteobl | bone |
| 44 | chr9:21467400-21468200 | Strong transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 45 | chr9:21467400-21468800 | Strong transcription | NHEK | skin |
| 46 | chr9:21467400-21469000 | Strong transcription | A549 | lung |
| 47 | chr9:21467600-21468600 | Strong transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 48 | chr9:21467800-21470800 | Strong transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 49 | chr9:21468000-21468400 | Strong transcription | HMEC | breast |
| 50 | chr9:21468000-21469000 | Weak transcription | Osteobl | bone |
