Variant report
| Variant | esv18838 |
|---|---|
| Chromosome Location | chr5:178258606-178266167 |
| allele | n/a |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:96)
- CpG islands (count:122)
- Chromatin interactive region (count:16)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | ATF1 | chr5:178265901-178266202 | K562 | blood: | n/a | n/a |
| 2 | BACH1 | chr5:178259949-178259966 | K562 | blood: | n/a | n/a |
| 3 | BHLHE40 | chr5:178259661-178259927 | K562 | blood: | n/a | n/a |
| 4 | CEBPB | chr5:178266040-178266088 | K562 | blood: | n/a | n/a |
| 5 | CHD2 | chr5:178259461-178260123 | K562 | blood: | n/a | n/a |
| 6 | CTCF | chr5:178266088-178266342 | MCF-7 | breast: | n/a | chr5:178266135-178266151 |
| 7 | CTCF | chr5:178258875-178258961 | MCF-7 | breast: | n/a | n/a |
| 8 | CTCF | chr5:178258886-178258912 | MCF-7 | breast: | n/a | n/a |
| 9 | CTCF | chr5:178258863-178259012 | MCF-7 | breast: | n/a | n/a |
| 10 | CTCF | chr5:178266103-178266213 | MCF-7 | breast: | n/a | chr5:178266135-178266151 |
| 11 | CTCF | chr5:178266080-178266230 | HCFaa | heart: | n/a | chr5:178266135-178266151 |
| 12 | CTCF | chr5:178266039-178266750 | K562 | blood: | n/a | chr5:178266544-178266562 chr5:178266546-178266559 chr5:178266547-178266557 chr5:178266545-178266561 chr5:178266539-178266560 chr5:178266550-178266559 chr5:178266135-178266151 |
| 13 | CTCF | chr5:178266080-178266230 | SAEC | small airway: | n/a | chr5:178266135-178266151 |
| 14 | CTCF | chr5:178266031-178266857 | MCF-7 | breast: | n/a | chr5:178266544-178266562 chr5:178266546-178266559 chr5:178266547-178266557 chr5:178266545-178266561 chr5:178266539-178266560 chr5:178266550-178266559 chr5:178266135-178266151 |
| 15 | CTCF | chr5:178266040-178266190 | SAEC | small airway: | n/a | chr5:178266135-178266151 |
| 16 | CTCF | chr5:178266042-178266367 | MCF-7 | breast: | n/a | chr5:178266135-178266151 |
| 17 | CTCF | chr5:178258582-178258969 | K562 | blood: | n/a | n/a |
| 18 | CTCF | chr5:178258646-178258845 | K562 | blood: | n/a | n/a |
| 19 | CTCF | chr5:178258881-178258884 | MCF-7 | breast: | n/a | n/a |
| 20 | CTCF | chr5:178266079-178266195 | K562 | blood: | n/a | chr5:178266135-178266151 |
| 21 | CTCF | chr5:178266060-178266210 | HPAF | blood vessel: | n/a | chr5:178266135-178266151 |
| 22 | CTCF | chr5:178266085-178266366 | MCF-7 | breast: | n/a | chr5:178266135-178266151 |
| 23 | CTCF | chr5:178266073-178266330 | MCF-7 | breast: | n/a | chr5:178266135-178266151 |
| 24 | E2F6 | chr5:178259630-178259807 | K562 | blood: | n/a | n/a |
| 25 | E2F6 | chr5:178259367-178260229 | K562 | blood: | n/a | n/a |
| 26 | EP300 | chr5:178259913-178259977 | GM12878 | blood: | n/a | n/a |
| 27 | FOS | chr5:178259742-178260211 | K562 | blood: | n/a | n/a |
| 28 | GATA3 | chr5:178265881-178266795 | MCF-7 | breast: | n/a | n/a |
| 29 | GATA3 | chr5:178265870-178266766 | MCF-7 | breast: | n/a | n/a |
| 30 | GATA3 | chr5:178266144-178266648 | MCF-7 | breast: | n/a | n/a |
| 31 | HDAC2 | chr5:178265989-178266734 | MCF-7 | breast: | n/a | n/a |
| 32 | HEY1 | chr5:178259180-178260059 | K562 | blood: | n/a | n/a |
| 33 | HEY1 | chr5:178259300-178259984 | K562 | blood: | n/a | n/a |
| 34 | HMGN3 | chr5:178259380-178259764 | K562 | blood: | n/a | n/a |
| 35 | JUND | chr5:178265912-178266614 | K562 | blood: | n/a | n/a |
| 36 | JUND | chr5:178259754-178259789 | K562 | blood: | n/a | n/a |
| 37 | MAFF | chr5:178263084-178263158 | K562 | blood: | n/a | n/a |
| 38 | MAX | chr5:178259482-178260281 | HCT-116 | colon: | n/a | n/a |
| 39 | MAX | chr5:178259555-178259991 | K562 | blood: | n/a | n/a |
| 40 | MAX | chr5:178266088-178266702 | MCF-7 | breast: | n/a | n/a |
| 41 | MAX | chr5:178259235-178260030 | K562 | blood: | n/a | n/a |
| 42 | MAX | chr5:178259607-178259953 | K562 | blood: | n/a | n/a |
| 43 | MAZ | chr5:178258829-178259744 | K562 | blood: | n/a | n/a |
| 44 | MXI1 | chr5:178259664-178260151 | K562 | blood: | n/a | n/a |
| 45 | MYC | chr5:178265485-178265552 | GM12878 | blood: | n/a | n/a |
| 46 | MYC | chr5:178259419-178260027 | K562 | blood: | n/a | n/a |
| 47 | MYC | chr5:178259348-178260040 | K562 | blood: | n/a | n/a |
| 48 | MYC | chr5:178266105-178266681 | K562 | blood: | n/a | n/a |
| 49 | MYC | chr5:178259634-178259693 | MCF-7 | breast: | n/a | n/a |
| 50 | MYC | chr5:178259407-178259544 | MCF-7 | breast: | n/a | n/a |
| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr5:178266060-178266110 | Caco-2 | colon: | n/a |
| 2 | chr5:178266060-178266110 | BE2_C | brain: | n/a |
| 3 | chr5:178266060-178266110 | GM06990 | blood: | n/a |
| 4 | chr5:178266060-178266110 | SAEC | small airway: | n/a |
| 5 | chr5:178266137-178266187 | HepG2 | liver: | n/a |
| 6 | chr5:178266137-178266187 | HUVEC | blood vessel: | n/a |
| 7 | chr5:178266137-178266187 | AG09309 | skin: | n/a |
| 8 | chr5:178266137-178266187 | PFSK-1 | brain: | n/a |
| 9 | chr5:178266137-178266187 | AG09319 | gingival: | n/a |
| 10 | chr5:178266060-178266110 | Hela-S3 | cervix: | n/a |
| 11 | chr5:178266137-178266187 | ProgFib | skin: | n/a |
| 12 | chr5:178266060-178266110 | NHDF-neo | bronchial: | n/a |
| 13 | chr5:178266137-178266187 | HCT-116 | colon: | n/a |
| 14 | chr5:178266137-178266187 | ovcar-3 | ovarian: | n/a |
| 15 | chr5:178266060-178266110 | LNCaP | prostate: | n/a |
| 16 | chr5:178266060-178266110 | HCF | heart: | n/a |
| 17 | chr5:178266137-178266187 | BE2_C | brain: | n/a |
| 18 | chr5:178266137-178266187 | PANC-1 | pancreas: | n/a |
| 19 | chr5:178266060-178266110 | AoSMC | blood vessel: | n/a |
| 20 | chr5:178266137-178266187 | NT2-D1 | testis: | n/a |
| 21 | chr5:178266137-178266187 | HCF | heart: | n/a |
| 22 | chr5:178266137-178266187 | HRPEpiC | eye: | n/a |
| 23 | chr5:178266060-178266110 | HRE | kidney: | n/a |
| 24 | chr5:178266060-178266110 | HPAEpiC | pulmonary alveolar: | n/a |
| 25 | chr5:178266137-178266187 | BJ | skin: | n/a |
| 26 | chr5:178266060-178266110 | PFSK-1 | brain: | n/a |
| 27 | chr5:178266137-178266187 | MCF-7 | breast: | n/a |
| 28 | chr5:178266060-178266110 | BJ | skin: | n/a |
| 29 | chr5:178266060-178266110 | SK-N-SH_RA | brain: | n/a |
| 30 | chr5:178266137-178266187 | HEK293 | kidney: | embryo |
| 31 | chr5:178266060-178266110 | H1-hESC | embryonic stem cell: | embryo |
| 32 | chr5:178266137-178266187 | GM12891 | blood: | n/a |
| 33 | chr5:178266137-178266187 | HCM | heart: | n/a |
| 34 | chr5:178266060-178266110 | NB4 | blood: | n/a |
| 35 | chr5:178266137-178266187 | HRCEpiC | kidney: | n/a |
| 36 | chr5:178266137-178266187 | HIPEpiC | eye: | n/a |
| 37 | chr5:178266137-178266187 | AG04449 | skin: | fetal |
| 38 | chr5:178266060-178266110 | K562 | blood: | n/a |
| 39 | chr5:178266137-178266187 | NHDF-neo | bronchial: | n/a |
| 40 | chr5:178266060-178266110 | MCF-7 | breast: | n/a |
| 41 | chr5:178266060-178266110 | NT2-D1 | testis: | n/a |
| 42 | chr5:178266060-178266110 | HNPCEpiC | eye: | n/a |
| 43 | chr5:178266137-178266187 | HRE | kidney: | n/a |
| 44 | chr5:178266137-178266187 | HNPCEpiC | eye: | n/a |
| 45 | chr5:178266060-178266110 | Hepatocyte | liver: | n/a |
| 46 | chr5:178266137-178266187 | LNCaP | prostate: | n/a |
| 47 | chr5:178266137-178266187 | MCF10A-Er-Src | breast: | n/a |
| 48 | chr5:178266060-178266110 | PrEC | prostate: | n/a |
| 49 | chr5:178266137-178266187 | Jurkat | blood: | n/a |
| 50 | chr5:178266137-178266187 | Hela-S3 | cervix: | n/a |
(count:16 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr5:177706663..177708953-chr5:178261165..178263624,2 | MCF-7 | breast: | |
| 2 | chr5:178262543..178264784-chr5:178273613..178275521,2 | K562 | blood: | |
| 3 | chr5:178228775..178231759-chr5:178257850..178260513,2 | MCF-7 | breast: | |
| 4 | chr5:178250159..178253046-chr5:178256116..178259012,3 | MCF-7 | breast: | |
| 5 | chr5:177706757..177707961-chr5:178266041..178266913,4 | MCF-7 | breast: | |
| 6 | chr5:177661196..177662135-chr5:178266134..178266915,2 | MCF-7 | breast: | |
| 7 | chr5:178219826..178220832-chr5:178266011..178266987,10 | MCF-7 | breast: | |
| 8 | chr5:178219935..178220578-chr5:178266097..178266710,3 | MCF-7 | breast: | |
| 9 | chr5:178214124..178214763-chr5:178265905..178266637,2 | MCF-7 | breast: | |
| 10 | chr5:177710796..177711682-chr5:178266072..178266614,2 | K562 | blood: | |
| 11 | chr5:178050940..178053910-chr5:178263858..178266243,2 | MCF-7 | breast: | |
| 12 | chr5:178157367..178158168-chr5:178266123..178266937,3 | MCF-7 | breast: | |
| 13 | chr5:178258610..178261483-chr5:178285999..178288925,2 | K562 | blood: | |
| 14 | chr5:178264186..178266313-chr5:178270488..178273068,2 | MCF-7 | breast: | |
| 15 | chr5:178157414..178158390-chr5:178265741..178266981,10 | MCF-7 | breast: | |
| 16 | chr5:178053047..178055636-chr5:178260492..178262068,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000253725 | TF binding region |
| ENSG00000253725 | CpG island |
| ENSG00000169131 | chromatin interactions |
| ENSG00000113240 | chromatin interactions |
| ENSG00000178338 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs532587555 | chr5:178258618-178258619 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs550812726 | chr5:178258629-178258630 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs6874069 | chr5:178258640-178258641 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs75295575 | chr5:178258656-178258657 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs560065490 | chr5:178258675-178258676 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs372178129 | chr5:178258692-178258693 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs34030500 | chr5:178258701-178258702 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs35316460 | chr5:178258705-178258706 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs71611463 | chr5:178258716-178258717 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs570615559 | chr5:178258721-178258722 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs34905117 | chr5:178258728-178258729 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs369979624 | chr5:178258746-178258747 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs145264854 | chr5:178258757-178258758 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs574672137 | chr5:178258758-178258759 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs535411942 | chr5:178258768-178258769 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs34325875 | chr5:178258786-178258787 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs571721191 | chr5:178258803-178258804 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs545462701 | chr5:178258804-178258805 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs563839846 | chr5:178258808-178258809 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs575773944 | chr5:178258809-178258810 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs146524030 | chr5:178258813-178258814 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs530959402 | chr5:178258825-178258826 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs386695529 | chr5:178258828-178258829 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs542174106 | chr5:178258829-178258830 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs75795220 | chr5:178258830-178258831 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs138559594 | chr5:178258864-178258865 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs376318986 | chr5:178258873-178258874 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs35580826 | chr5:178258900-178258901 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs531887904 | chr5:178258921-178258922 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs78926862 | chr5:178258944-178258945 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs111608195 | chr5:178258960-178258961 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs535703380 | chr5:178258972-178258973 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs553801655 | chr5:178258973-178258974 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs565288498 | chr5:178258987-178258988 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs539054313 | chr5:178259007-178259008 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs112869772 | chr5:178259019-178259020 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs78737520 | chr5:178259029-178259030 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 38 | rs556686851 | chr5:178259042-178259043 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 39 | rs74614232 | chr5:178259062-178259063 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs201453994 | chr5:178259085-178259086 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs542463590 | chr5:178259086-178259087 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs76535214 | chr5:178259120-178259121 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs80016329 | chr5:178259131-178259132 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs13188572 | chr5:178259132-178259133 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 45 | rs76183542 | chr5:178259157-178259158 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs74414824 | chr5:178259164-178259165 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs77136258 | chr5:178259170-178259171 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 48 | rs573097635 | chr5:178259186-178259187 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs550019805 | chr5:178259201-178259202 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs75245653 | chr5:178259221-178259222 | Active TSS Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 20164919 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 16751803 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Glioma | 20126413 | CNVD |
| Cancer | 22429812 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Leukemia | 17361228 | CNVD |
| Myelodysplastic syndrome | 18508791 | CNVD |
| 5q-syndrome | 17576883 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Renal cell carcinoma | 19377443 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| epilepsy | 18472482 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Sotos syndrome | 21572526 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Sotos syndrome | 17561922 | CNVD |
| Sotos syndrome | 16773131 | CNVD |
| Mental retardation | 16773131 | CNVD |
| Sotos syndrome | 22470819 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Acute myeloid leukemia | 18000384 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Chordoma | 18071362 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| abnormal development | 18461090 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Lung cancer | 17297452 | CNVD |
| Cancer | 20164920 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21804112 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Sotos syndrome | 22283845 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Sotos syndrome | 20503325 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Congenital Hypertrichosis Syndrome | 21636067 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Breast cancer | 19181860 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Ehlers-danlos syndrome | 17576883 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Autism | 19246517 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:178254000-178259400 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
| 2 | chr5:178254200-178259400 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 3 | chr5:178257200-178259200 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 4 | chr5:178257200-178259400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 5 | chr5:178257600-178259400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 6 | chr5:178257800-178258800 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 7 | chr5:178258200-178259800 | Active TSS | iPS-18 Cell Line | embryonic stem cell |
| 8 | chr5:178258200-178260000 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
| 9 | chr5:178258400-178258800 | Flanking Active TSS | K562 | blood |
| 10 | chr5:178258600-178259800 | Active TSS | iPS-20b Cell Line | embryonic stem cell |
| 11 | chr5:178258800-178260000 | Active TSS | HUES6 Cell Line | embryonic stem cell |
| 12 | chr5:178258800-178260000 | Active TSS | K562 | blood |
| 13 | chr5:178259200-178259800 | Active TSS | H9 Cell Line | embryonic stem cell |
| 14 | chr5:178259400-178259600 | Flanking Active TSS | Dnd41 | blood |
| 15 | chr5:178259400-178259800 | Active TSS | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 16 | chr5:178259400-178259800 | Active TSS | HUES64 Cell Line | embryonic stem cell |
| 17 | chr5:178259400-178259800 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 18 | chr5:178259400-178259800 | Flanking Active TSS | iPS DF 19.11 Cell Line | embryonic stem cell |
| 19 | chr5:178259400-178260000 | Active TSS | iPS-15b Cell Line | embryonic stem cell |
| 20 | chr5:178259600-178259800 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 21 | chr5:178259600-178259800 | Active TSS | Dnd41 | blood |
| 22 | chr5:178263200-178264800 | Enhancers | Placenta | Placenta |
| 23 | chr5:178263600-178286400 | Weak transcription | Right Atrium | heart |
| 24 | chr5:178264800-178265200 | Weak transcription | Placenta | Placenta |
| 25 | chr5:178265200-178266400 | Enhancers | Placenta | Placenta |
| 26 | chr5:178266000-178266400 | Active TSS | iPS-20b Cell Line | embryonic stem cell |
| 27 | chr5:178266000-178266400 | Active TSS | K562 | blood |
| 28 | chr5:178266000-178266600 | Active TSS | iPS DF 19.11 Cell Line | embryonic stem cell |






