Variant report
Variant | nsv1034194 |
---|---|
Chromosome Location | chr5:50209649-50234259 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:218)
- CpG islands (count:367)
- Chromatin interactive region (count:7)
- 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 | chr5:50225129-50225484 | K562 | blood: | n/a | n/a |
2 | BHLHE40 | chr5:50218597-50218768 | K562 | blood: | n/a | n/a |
3 | CEBPB | chr5:50225036-50225368 | A549 | lung: | n/a | chr5:50225195-50225206 |
4 | CEBPB | chr5:50222809-50223072 | HepG2 | liver: | n/a | chr5:50222984-50222995 |
5 | CEBPB | chr5:50225040-50225385 | HepG2 | liver: | n/a | chr5:50225195-50225206 |
6 | CEBPB | chr5:50225112-50225366 | H1-hESC | embryonic stem cell: | n/a | chr5:50225195-50225206 |
7 | CEBPB | chr5:50225028-50225380 | Hela-S3 | cervix: | n/a | chr5:50225195-50225206 |
8 | CEBPB | chr5:50222836-50223100 | IMR90 | lung: | n/a | chr5:50222984-50222995 |
9 | CEBPB | chr5:50225041-50225353 | K562 | blood: | n/a | chr5:50225195-50225206 |
10 | CEBPB | chr5:50222863-50223092 | A549 | lung: | n/a | chr5:50222984-50222995 |
11 | CEBPB | chr5:50224895-50225453 | HCT-116 | colon: | n/a | chr5:50225195-50225206 |
12 | CEBPB | chr5:50225041-50225372 | IMR90 | lung: | n/a | chr5:50225195-50225206 |
13 | CEBPB | chr5:50222898-50223030 | K562 | blood: | n/a | chr5:50222984-50222995 |
14 | CTCF | chr5:50218560-50218710 | GM12872 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
15 | CTCF | chr5:50218520-50218670 | HRPEpiC | eye: | n/a | n/a |
16 | CTCF | chr5:50218580-50218730 | NB4 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
17 | CTCF | chr5:50218556-50218777 | Lung_OC | lung: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
18 | CTCF | chr5:50218580-50218730 | HepG2 | liver: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
19 | CTCF | chr5:50218439-50218864 | K562 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
20 | CTCF | chr5:50218455-50218840 | K562 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
21 | CTCF | chr5:50218540-50218690 | AG04449 | skin: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
22 | CTCF | chr5:50218605-50218805 | IMR90 | lung: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
23 | CTCF | chr5:50218580-50218730 | GM12874 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
24 | CTCF | chr5:50218540-50218690 | GM12864 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
25 | CTCF | chr5:50218518-50218790 | GM20000 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
26 | CTCF | chr5:50218600-50218750 | GM12866 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
27 | CTCF | chr5:50218481-50218798 | K562 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
28 | CTCF | chr5:50218580-50218730 | GM12870 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
29 | CTCF | chr5:50218560-50218710 | GM06990 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
30 | CTCF | chr5:50218516-50218800 | GM12878 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
31 | CTCF | chr5:50218800-50218950 | NHLF | lung: | n/a | n/a |
32 | CTCF | chr5:50218515-50218787 | ProgFib | skin: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
33 | CTCF | chr5:50218484-50218846 | K562 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
34 | CTCF | chr5:50218518-50218815 | GM10266 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
35 | CTCF | chr5:50218464-50218804 | GM12891 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
36 | CTCF | chr5:50218580-50218730 | BE2_C | brain: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
37 | CTCF | chr5:50218481-50218802 | Gliobla | brain: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
38 | CTCF | chr5:50218560-50218710 | GM12869 | blood: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
39 | CTCF | chr5:50218600-50218750 | NHDF-neo | bronchial: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
40 | CTCF | chr5:50218600-50218750 | HVMF | connective: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
41 | CTCF | chr5:50218700-50218850 | AG04450 | lung: | n/a | n/a |
42 | CTCF | chr5:50218580-50218730 | SAEC | small airway: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
43 | CTCF | chr5:50218532-50218790 | Pancreas_OC | pancreas: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
44 | CTCF | chr5:50218740-50218890 | HEK293 | kidney: | n/a | n/a |
45 | CTCF | chr5:50218580-50218730 | WERI-Rb-1 | eye: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
46 | CTCF | chr5:50218600-50218750 | HCT-116 | colon: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
47 | CTCF | chr5:50218649-50218750 | LNCaP | prostate: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
48 | CTCF | chr5:50218440-50218590 | HFF-Myc | foreskin: | n/a | n/a |
49 | CTCF | chr5:50218503-50218786 | MCF-7 | breast: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
50 | CTCF | chr5:50218516-50218786 | Spleen_OC | spleen: | n/a | chr5:50218664-50218682 chr5:50218667-50218676 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:50218625-50218675 | AG09309 | skin: | n/a |
2 | chr5:50218625-50218675 | AG09309 | skin: | n/a |
3 | chr5:50219227-50219277 | AG04449 | skin: | fetal |
4 | chr5:50218876-50218926 | BJ | skin: | n/a |
5 | chr5:50218625-50218675 | HEK293 | kidney: | embryo |
6 | chr5:50218876-50218926 | HCM | heart: | n/a |
7 | chr5:50218876-50218926 | AG04450 | lung: | fetal |
8 | chr5:50219072-50219122 | H1-hESC | embryonic stem cell: | embryo |
9 | chr5:50219467-50219517 | NH-A | brain: | n/a |
10 | chr5:50218876-50218926 | AG10803 | skin: | n/a |
11 | chr5:50219467-50219517 | HCF | heart: | n/a |
12 | chr5:50219467-50219517 | HL-60 | blood: | n/a |
13 | chr5:50218625-50218675 | HMEC | breast: | n/a |
14 | chr5:50218876-50218926 | RPTEC | kidney: | n/a |
15 | chr5:50218625-50218675 | HCM | heart: | n/a |
16 | chr5:50218876-50218926 | HRCEpiC | kidney: | n/a |
17 | chr5:50219072-50219122 | HPAEpiC | pulmonary alveolar: | n/a |
18 | chr5:50218876-50218926 | U87 | brain: | n/a |
19 | chr5:50218876-50218926 | NH-A | brain: | n/a |
20 | chr5:50219227-50219277 | MCF-7 | breast: | n/a |
21 | chr5:50218625-50218675 | NT2-D1 | testis: | n/a |
22 | chr5:50219467-50219517 | Caco-2 | colon: | n/a |
23 | chr5:50219227-50219277 | BE2_C | brain: | n/a |
24 | chr5:50219072-50219122 | RPTEC | kidney: | n/a |
25 | chr5:50218922-50218972 | PFSK-1 | brain: | n/a |
26 | chr5:50219072-50219122 | HIPEpiC | eye: | n/a |
27 | chr5:50219467-50219517 | NT2-D1 | testis: | n/a |
28 | chr5:50219467-50219517 | IMR90 | lung: | fetal |
29 | chr5:50218922-50218972 | HRCEpiC | kidney: | n/a |
30 | chr5:50219227-50219277 | HCT-116 | colon: | n/a |
31 | chr5:50218876-50218926 | HL-60 | blood: | n/a |
32 | chr5:50219467-50219517 | HIPEpiC | eye: | n/a |
33 | chr5:50219467-50219517 | T-47D | breast: | n/a |
34 | chr5:50219227-50219277 | SKMC | muscle: | n/a |
35 | chr5:50219227-50219277 | GM12891 | blood: | n/a |
36 | chr5:50218625-50218675 | HL-60 | blood: | n/a |
37 | chr5:50218922-50218972 | HCM | heart: | n/a |
38 | chr5:50218922-50218972 | A549 | lung: | n/a |
39 | chr5:50218876-50218926 | HMEC | breast: | n/a |
40 | chr5:50218922-50218972 | H1-hESC | embryonic stem cell: | embryo |
41 | chr5:50219467-50219517 | NHBE | bronchial: | n/a |
42 | chr5:50218625-50218675 | NHBE | bronchial: | n/a |
43 | chr5:50219072-50219122 | AG04449 | skin: | fetal |
44 | chr5:50219072-50219122 | MCF-7 | breast: | n/a |
45 | chr5:50219227-50219277 | SK-N-SH_RA | brain: | n/a |
46 | chr5:50218922-50218972 | HEEpiC | esophagus: | n/a |
47 | chr5:50219227-50219277 | K562 | blood: | n/a |
48 | chr5:50219467-50219517 | BJ | skin: | n/a |
49 | chr5:50218625-50218675 | HAEpiC | amniotic membrane: | n/a |
50 | chr5:50219072-50219122 | HepG2 | liver: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:50228151..50230751-chr5:50231157..50233024,2 | K562 | blood: | |
2 | chr5:50227478..50230397-chr5:50232947..50234974,2 | MCF-7 | breast: | |
3 | chr5:50203464..50206328-chr5:50214856..50217371,2 | MCF-7 | breast: | |
4 | chr5:50215584..50218539-chr5:50219483..50221436,2 | MCF-7 | breast: | |
5 | chr12:99592032..99592637-chr5:50232515..50233131,2 | MCF-7 | breast: | |
6 | chr5:50215584..50218539-chr5:50219483..50221436,2 | MCF-7 | breast: | |
7 | chr5:50233489..50235241-chr5:50248596..50251574,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000251601 | TF binding region |
ENSG00000251601 | CpG island |
ENSG00000251601 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs3991897 | chr5:50218065-50218066 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs3991896 | chr5:50218081-50218082 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs3958408 | chr5:50218109-50218110 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs574207841 | chr5:50218185-50218186 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs111229654 | chr5:50218208-50218209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs55782617 | chr5:50218278-50218279 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs146401703 | chr5:50218305-50218306 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs889227 | chr5:50218340-50218341 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs528730108 | chr5:50218345-50218346 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs545366975 | chr5:50218346-50218347 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs376919331 | chr5:50218349-50218350 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs188075668 | chr5:50218384-50218385 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs377436451 | chr5:50218394-50218395 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs199752055 | chr5:50218395-50218396 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs530788585 | chr5:50218396-50218397 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs550975192 | chr5:50218399-50218400 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs567730045 | chr5:50218402-50218403 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
18 | rs371006796 | chr5:50218404-50218405 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
19 | rs546770620 | chr5:50218441-50218442 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
20 | rs191292348 | chr5:50218499-50218500 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
21 | rs538869098 | chr5:50218509-50218510 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
22 | rs558558468 | chr5:50218575-50218576 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
23 | rs368230472 | chr5:50218578-50218579 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
24 | rs112206672 | chr5:50218606-50218607 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs537406499 | chr5:50218661-50218662 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
26 | rs554151394 | chr5:50218663-50218664 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs112947786 | chr5:50218677-50218678 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs889218 | chr5:50218729-50218730 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs539934341 | chr5:50218792-50218793 | Bivalent/Poised TSS Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
30 | rs553491149 | chr5:50218823-50218824 | Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs573341017 | chr5:50218862-50218863 | Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs545610063 | chr5:50218879-50218880 | Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs555900760 | chr5:50218911-50218912 | Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs182617120 | chr5:50219015-50219016 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs575910352 | chr5:50219075-50219076 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs376647472 | chr5:50219084-50219085 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs111815994 | chr5:50219088-50219089 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs530165789 | chr5:50219098-50219099 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs115553495 | chr5:50219112-50219113 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs560606592 | chr5:50219134-50219135 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs545469468 | chr5:50219164-50219165 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs532188422 | chr5:50219166-50219167 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs186471172 | chr5:50219175-50219176 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs569013966 | chr5:50219204-50219205 | Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
45 | rs538142850 | chr5:50219226-50219227 | Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
46 | rs191272372 | chr5:50219280-50219281 | Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
47 | rs113131737 | chr5:50219282-50219283 | Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
48 | rs370304288 | chr5:50219288-50219289 | Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
49 | rs552013232 | chr5:50219292-50219293 | Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
50 | rs533576120 | chr5:50219316-50219317 | Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
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 |
Colorectal cancer | 21645411 | CNVD |
Gastric cancer | 22152101 | CNVD |
Oesophago-gastric ulcer | 22152101 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
DNA damage stimulus | 22844521 | CNVD |
DNA repair | 22844521 | CNVD |
Breast cancer | 21785460 | CNVD |
Spinal muscular atrophy | 22422766 | CNVD |
Spinal muscular atrophy | 22558076 | CNVD |
Spinal muscular atrophy | 21320981 | CNVD |
Spinal muscular atrophy | 21762474 | CNVD |
Cancer | 16751803 | CNVD |
Autism | 22495311 | CNVD |
Intellectual disability | 22102821 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21183584 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioma | 20126413 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Breast cancer | 22032731 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
Breast cancer | 17393978 | CNVD |
Cancer | 21359685 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Myelofibrosis | 22110671 | 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 |
Breast cancer | 21858162 | CNVD |
Hepatocellular carcinoma | 16750200 | 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 |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21364760 | CNVD |
Oral cancer | 21386901 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Bladder cancer | 21909424 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:50218000-50218800 | Enhancers | Placenta | Placenta |
2 | chr5:50218000-50219200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr5:50218400-50218600 | Enhancers | Fetal Muscle Leg | muscle |
4 | chr5:50218400-50218800 | Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
5 | chr5:50218400-50218800 | Active TSS | Stomach Smooth Muscle | stomach |
6 | chr5:50218400-50219000 | Bivalent/Poised TSS | ES-I3 Cell Line | embryonic stem cell |
7 | chr5:50218400-50219000 | Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
8 | chr5:50218800-50219000 | Flanking Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
9 | chr5:50218800-50219000 | Flanking Active TSS | Stomach Smooth Muscle | stomach |
10 | chr5:50218800-50219200 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
11 | chr5:50218800-50219200 | Enhancers | HepG2 | liver |
12 | chr5:50218800-50219800 | Weak transcription | Fetal Muscle Leg | muscle |
13 | chr5:50219000-50219200 | Bivalent Enhancer | ES-WA7 Cell Line | embryonic stem cell |
14 | chr5:50219000-50219200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
15 | chr5:50219000-50219400 | Flanking Bivalent TSS/Enh | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
16 | chr5:50219200-50219400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
17 | chr5:50219200-50219400 | Bivalent Enhancer | HepG2 | liver |
18 | chr5:50219400-50219600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
19 | chr5:50219600-50219800 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
20 | chr5:50219800-50220200 | Enhancers | Fetal Muscle Trunk | muscle |
21 | chr5:50219800-50220200 | Enhancers | Fetal Muscle Leg | muscle |
22 | chr5:50225000-50225400 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
23 | chr5:50228000-50228400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
24 | chr5:50228000-50228400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
25 | chr5:50228000-50228600 | Enhancers | Brain Cingulate Gyrus | brain |