Variant report
Variant | nsv968284 |
---|---|
Chromosome Location | chr5:177467634-177485067 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:78)
- CpG islands (count:550)
- Chromatin interactive region (count:2)
- LncRNA region (count:42)
- 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 | BHLHE40 | chr5:177473936-177474136 | K562 | blood: | n/a | n/a |
2 | BHLHE40 | chr5:177473797-177474152 | GM12878 | blood: | n/a | n/a |
3 | CEBPB | chr5:177484353-177484391 | HepG2 | liver: | n/a | chr5:177484379-177484390 |
4 | CREB1 | chr5:177473878-177474201 | GM12878 | blood: | n/a | n/a |
5 | CTCF | chr5:177476786-177476933 | GM13976 | blood: | n/a | n/a |
6 | CTCF | chr5:177482583-177482778 | T-47D | breast: | n/a | n/a |
7 | CTCF | chr5:177472796-177473159 | K562 | blood: | n/a | n/a |
8 | CTCF | chr5:177485057-177485139 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | CTCF | chr5:177472797-177473037 | K562 | blood: | n/a | n/a |
10 | CTCF | chr5:177482992-177483131 | T-47D | breast: | n/a | n/a |
11 | EBF1 | chr5:177475060-177475264 | GM12878 | blood: | n/a | n/a |
12 | FOS | chr5:177480610-177480647 | MCF10A-Er-Src | breast: | n/a | n/a |
13 | FOSL2 | chr5:177472955-177473210 | HepG2 | liver: | n/a | n/a |
14 | FOSL2 | chr5:177474931-177475710 | HepG2 | liver: | n/a | chr5:177475575-177475586 |
15 | FOSL2 | chr5:177471401-177471623 | HepG2 | liver: | n/a | n/a |
16 | FOSL2 | chr5:177473257-177473489 | HepG2 | liver: | n/a | n/a |
17 | FOSL2 | chr5:177472101-177472631 | HepG2 | liver: | n/a | n/a |
18 | FOXA1 | chr5:177469654-177470480 | HepG2 | liver: | n/a | n/a |
19 | FOXA1 | chr5:177468824-177469300 | HepG2 | liver: | n/a | n/a |
20 | GABPA | chr5:177475003-177475291 | Hela-S3 | cervix: | n/a | n/a |
21 | HEY1 | chr5:177482814-177483073 | K562 | blood: | n/a | n/a |
22 | HEY1 | chr5:177482540-177482780 | K562 | blood: | n/a | n/a |
23 | IRF4 | chr5:177468446-177468785 | GM12878 | blood: | n/a | n/a |
24 | JUND | chr5:177474991-177475246 | HepG2 | liver: | n/a | n/a |
25 | JUND | chr5:177470165-177470291 | HepG2 | liver: | n/a | n/a |
26 | MAFF | chr5:177471896-177472035 | K562 | blood: | n/a | n/a |
27 | MAFF | chr5:177471863-177472064 | HepG2 | liver: | n/a | n/a |
28 | MAFK | chr5:177471854-177472088 | HepG2 | liver: | n/a | chr5:177471932-177471952 chr5:177471934-177471950 |
29 | MAFK | chr5:177471865-177472043 | IMR90 | lung: | n/a | chr5:177471932-177471952 chr5:177471934-177471950 |
30 | MAFK | chr5:177471843-177472094 | HepG2 | liver: | n/a | chr5:177471932-177471952 chr5:177471934-177471950 |
31 | NR3C1 | chr5:177474989-177475370 | A549 | lung: | n/a | n/a |
32 | PAX5 | chr5:177473868-177474041 | GM12878 | blood: | n/a | n/a |
33 | PAX5 | chr5:177475052-177475303 | GM12878 | blood: | n/a | n/a |
34 | PAX5 | chr5:177474967-177475392 | GM12878 | blood: | n/a | n/a |
35 | PBX3 | chr5:177476930-177477070 | GM12878 | blood: | n/a | n/a |
36 | POLR2A | chr5:177482548-177483036 | GM12878 | blood: | n/a | n/a |
37 | POLR2A | chr5:177482730-177482836 | A549 | lung: | n/a | n/a |
38 | POLR2A | chr5:177482577-177482927 | GM12878 | blood: | n/a | n/a |
39 | POLR2A | chr5:177472504-177472622 | Gliobla | brain: | n/a | n/a |
40 | POLR2A | chr5:177482733-177482734 | K562 | blood: | n/a | n/a |
41 | POLR2A | chr5:177480605-177480673 | Gliobla | brain: | n/a | n/a |
42 | POLR2A | chr5:177483118-177483485 | K562 | blood: | n/a | n/a |
43 | POLR2A | chr5:177483991-177485391 | K562 | blood: | n/a | n/a |
44 | POLR2A | chr5:177482504-177483076 | GM12892 | blood: | n/a | n/a |
45 | POLR2A | chr5:177482806-177482830 | Gliobla | brain: | n/a | n/a |
46 | POLR2A | chr5:177482566-177482806 | HepG2 | liver: | n/a | n/a |
47 | POLR2A | chr5:177482723-177482932 | H1-hESC | embryonic stem cell: | n/a | n/a |
48 | POLR2A | chr5:177482081-177482100 | K562 | blood: | n/a | n/a |
49 | POLR2A | chr5:177482520-177483156 | GM12878 | blood: | n/a | n/a |
50 | POLR2A | chr5:177482958-177483053 | HepG2 | liver: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:177474496-177474546 | PANC-1 | pancreas: | n/a |
2 | chr5:177474496-177474546 | PANC-1 | pancreas: | n/a |
3 | chr5:177482771-177482821 | HNPCEpiC | eye: | n/a |
4 | chr5:177474496-177474546 | HUVEC | blood vessel: | n/a |
5 | chr5:177482829-177482879 | AG09319 | gingival: | n/a |
6 | chr5:177481396-177481446 | AG04449 | skin: | fetal |
7 | chr5:177482829-177482879 | AG04450 | lung: | fetal |
8 | chr5:177482829-177482879 | HL-60 | blood: | n/a |
9 | chr5:177484324-177484374 | AG09319 | gingival: | n/a |
10 | chr5:177482700-177482750 | SK-N-SH_RA | brain: | n/a |
11 | chr5:177480639-177480689 | IMR90 | lung: | fetal |
12 | chr5:177484324-177484374 | HUVEC | blood vessel: | n/a |
13 | chr5:177482829-177482879 | LNCaP | prostate: | n/a |
14 | chr5:177474496-177474546 | AG04449 | skin: | fetal |
15 | chr5:177481396-177481446 | RPTEC | kidney: | n/a |
16 | chr5:177482700-177482750 | ECC-1 | luminal epithelium: | n/a |
17 | chr5:177482458-177482508 | Hela-S3 | cervix: | n/a |
18 | chr5:177484324-177484374 | SK-N-MC | brain: | n/a |
19 | chr5:177474496-177474546 | NB4 | blood: | n/a |
20 | chr5:177482700-177482750 | BJ | skin: | n/a |
21 | chr5:177481396-177481446 | PrEC | prostate: | n/a |
22 | chr5:177471165-177471215 | SK-N-SH | brain: | n/a |
23 | chr5:177474496-177474546 | GM12878 | blood: | n/a |
24 | chr5:177471165-177471215 | PANC-1 | pancreas: | n/a |
25 | chr5:177482771-177482821 | NHDF-neo | bronchial: | n/a |
26 | chr5:177482771-177482821 | HPAEpiC | pulmonary alveolar: | n/a |
27 | chr5:177480639-177480689 | BJ | skin: | n/a |
28 | chr5:177482458-177482508 | HepG2 | liver: | n/a |
29 | chr5:177480639-177480689 | GM12891 | blood: | n/a |
30 | chr5:177484324-177484374 | ECC-1 | luminal epithelium: | n/a |
31 | chr5:177481396-177481446 | ovcar-3 | ovarian: | n/a |
32 | chr5:177471165-177471215 | T-47D | breast: | n/a |
33 | chr5:177481396-177481446 | SK-N-SH_RA | brain: | n/a |
34 | chr5:177482458-177482508 | T-47D | breast: | n/a |
35 | chr5:177471165-177471215 | SKMC | muscle: | n/a |
36 | chr5:177482458-177482508 | HEK293 | kidney: | embryo |
37 | chr5:177484324-177484374 | RPTEC | kidney: | n/a |
38 | chr5:177482829-177482879 | HRPEpiC | eye: | n/a |
39 | chr5:177482771-177482821 | CMK | blood: | n/a |
40 | chr5:177474496-177474546 | Hela-S3 | cervix: | n/a |
41 | chr5:177482771-177482821 | HCT-116 | colon: | n/a |
42 | chr5:177482458-177482508 | HMEC | breast: | n/a |
43 | chr5:177482829-177482879 | SK-N-SH | brain: | n/a |
44 | chr5:177481396-177481446 | HepG2 | liver: | n/a |
45 | chr5:177482771-177482821 | HIPEpiC | eye: | n/a |
46 | chr5:177474496-177474546 | SK-N-SH | brain: | n/a |
47 | chr5:177480639-177480689 | NHDF-neo | bronchial: | n/a |
48 | chr5:177482829-177482879 | SK-N-SH_RA | brain: | n/a |
49 | chr5:177482458-177482508 | HCT-116 | colon: | n/a |
50 | chr5:177484324-177484374 | NHDF-neo | bronchial: | n/a |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FAM153C-1 | chr5:177479627-177479688 | NONHSAT105510 |
2 | lnc-FAM153C-1 | chr5:177479534-177479688 | NONHSAT105507 |
3 | lnc-FAM153C-1 | chr5:177473873-177473940 | NR_038353 |
4 | lnc-FAM153C-1 | chr5:177480841-177480974 | NONHSAT147373 |
5 | lnc-FAM153C-1 | chr5:177474029-177474134 | NR_038353 |
6 | lnc-FAM153C-1 | chr5:177473415-177473452 | NR_038353 |
7 | lnc-FAM153C-1 | chr5:177476416-177476911 | NONHSAT105507 |
8 | lnc-FAM153C-1 | chr5:177479804-177479990 | NONHSAT105503 |
9 | lnc-FAM153C-1 | chr5:177475666-177476088 | NR_038353 |
10 | lnc-FAM153C-1 | chr5:177468694-177468764 | NR_038353 |
11 | lnc-FAM153C-1 | chr5:177480841-177480974 | NONHSAT105505 |
12 | lnc-FAM153C-1 | chr5:177479804-177479990 | NONHSAT105509 |
13 | lnc-FAM153C-1 | chr5:177481717-177481808 | NONHSAT105511 |
14 | lnc-FAM153C-1 | chr5:177475777-177476322 | NONHSAT105503 |
15 | lnc-FAM153C-1 | chr5:177479534-177479688 | NONHSAT105505 |
16 | lnc-FAM153C-1 | chr5:177482370-177482560 | NONHSAT105510 |
17 | lnc-FAM153C-1 | chr5:177481059-177481134 | NONHSAT105503 |
18 | lnc-FAM153C-1 | chr5:177481739-177481799 | NONHSAT147373 |
19 | lnc-FAM153C-1 | chr5:177482370-177482560 | NONHSAT105511 |
20 | lnc-PROP1-3 | chr5:177479413-177479692 | XLOC_005101 |
21 | lnc-FAM153C-1 | chr5:177476266-177476322 | NONHSAT105504 |
22 | lnc-FAM153C-1 | chr5:177481739-177481780 | NONHSAT105509 |
23 | lnc-PROP1-3 | chr5:177479808-177479818 | XLOC_005101 |
24 | lnc-FAM153C-1 | chr5:177480873-177480974 | NONHSAT105511 |
25 | lnc-FAM153C-1 | chr5:177480841-177480974 | NONHSAT105503 |
26 | lnc-FAM153C-1 | chr5:177480841-177480974 | NONHSAT105504 |
27 | lnc-FAM153C-1 | chr5:177479420-177479688 | NONHSAT105509 |
28 | lnc-FAM153C-1 | chr5:177480841-177480974 | NONHSAT105509 |
29 | lnc-FAM153C-1 | chr5:177479534-177479688 | NONHSAT105503 |
30 | lnc-FAM153C-1 | chr5:177484650-177484770 | NONHSAT105504 |
31 | lnc-FAM153C-1 | chr5:177479804-177479990 | NONHSAT105504 |
32 | lnc-FAM153C-1 | chr5:177479557-177479688 | NONHSAT147373 |
33 | lnc-FAM153C-1 | chr5:177480841-177480974 | NONHSAT105507 |
34 | lnc-FAM153C-1 | chr5:177469196-177469226 | NR_038353 |
35 | lnc-FAM153C-1 | chr5:177479534-177479688 | NONHSAT105504 |
36 | lnc-FAM153C-1 | chr5:177480841-177480974 | NONHSAT105506 |
37 | lnc-FAM153C-1 | chr5:177479534-177479688 | NONHSAT105506 |
38 | lnc-FAM153C-1 | chr5:177476298-177476322 | NONHSAT105506 |
39 | lnc-FAM153C-1 | chr5:177479804-177479990 | NONHSAT105507 |
40 | lnc-FAM153C-1 | chr5:177476289-177476322 | NONHSAT105505 |
41 | lnc-FAM153C-1 | chr5:177480841-177480974 | NONHSAT105510 |
42 | lnc-FAM153C-1 | chr5:177481739-177481808 | NONHSAT105510 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000218227 | TF binding region |
FAM153C | TF binding region |
ENSG00000218227 | CpG island |
FAM153C | CpG island |
ENSG00000197451 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs142838560 | chr5:177468720-177468721 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
2 | rs530959947 | chr5:177468732-177468733 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
3 | rs369856765 | chr5:177468755-177468756 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs201786531 | chr5:177468759-177468760 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs373861982 | chr5:177469219-177469220 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
6 | rs563139136 | chr5:177471165-177471166 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs565891728 | chr5:177471169-177471170 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs539586388 | chr5:177471200-177471201 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs557791081 | chr5:177471427-177471428 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs576267242 | chr5:177471434-177471435 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs537889706 | chr5:177471435-177471436 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs556515126 | chr5:177471444-177471445 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs368085517 | chr5:177471457-177471458 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs529143977 | chr5:177471590-177471591 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs202101283 | chr5:177471605-177471606 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs183837477 | chr5:177471844-177471845 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs145368143 | chr5:177471864-177471865 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs551540300 | chr5:177471946-177471947 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs569894941 | chr5:177471981-177471982 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs537346908 | chr5:177472013-177472014 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs187709139 | chr5:177472023-177472024 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs565418207 | chr5:177472028-177472029 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs555192491 | chr5:177472034-177472035 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs574499063 | chr5:177472059-177472060 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs372350354 | chr5:177472075-177472076 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs553869650 | chr5:177472118-177472119 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs572185330 | chr5:177472160-177472161 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs546113944 | chr5:177472190-177472191 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs111858267 | chr5:177472229-177472230 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs564692414 | chr5:177472272-177472273 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs144020203 | chr5:177472280-177472281 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs62390469 | chr5:177472560-177472561 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs544105931 | chr5:177472587-177472588 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs562335490 | chr5:177472634-177472635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs528920527 | chr5:177472789-177472790 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs547396399 | chr5:177472797-177472798 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs559526232 | chr5:177473027-177473028 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs71603461 | chr5:177473316-177473317 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs551337044 | chr5:177473339-177473340 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs569833010 | chr5:177473378-177473379 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs530576065 | chr5:177473421-177473422 | Weak transcription | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs548878494 | chr5:177473452-177473453 | Weak transcription | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs567193602 | chr5:177473483-177473484 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs535483981 | chr5:177473503-177473504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs553734678 | chr5:177473551-177473552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs566081649 | chr5:177473666-177473667 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs148946021 | chr5:177473720-177473721 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs143727524 | chr5:177473723-177473724 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs73807339 | chr5:177473775-177473776 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs536916815 | chr5:177473798-177473799 | Enhancers | TF binding 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 |
Melanoma | 20877625 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:177472000-177472200 | Enhancers | Fetal Thymus | thymus |
2 | chr5:177472200-177473600 | Weak transcription | Fetal Thymus | thymus |
3 | chr5:177473600-177474600 | Enhancers | Fetal Thymus | thymus |
4 | chr5:177473600-177474800 | Enhancers | Primary B cells from peripheral blood | blood |
5 | chr5:177473600-177475600 | Enhancers | Primary T cells fromperipheralblood | blood |
6 | chr5:177473800-177474000 | Enhancers | Spleen | Spleen |
7 | chr5:177473800-177474400 | Enhancers | Primary T helper naive cells fromperipheralblood | blood |
8 | chr5:177474200-177474800 | Enhancers | Thymus | Thymus |
9 | chr5:177474800-177485000 | Weak transcription | Thymus | Thymus |
10 | chr5:177480000-177484600 | Weak transcription | Spleen | Spleen |
11 | chr5:177480600-177480800 | Enhancers | Pancreas | Pancrea |
12 | chr5:177480600-177482400 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
13 | chr5:177480800-177484000 | Weak transcription | Pancreas | Pancrea |
14 | chr5:177482400-177482800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
15 | chr5:177482400-177483200 | Strong transcription | Brain Dorsolateral Prefrontal Cortex | brain |
16 | chr5:177482800-177484600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
17 | chr5:177483200-177489200 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
18 | chr5:177483400-177494200 | Weak transcription | Brain Inferior Temporal Lobe | brain |
19 | chr5:177484000-177486400 | Enhancers | Pancreas | Pancrea |
20 | chr5:177484600-177485200 | Strong transcription | Spleen | Spleen |
21 | chr5:177484800-177485000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
22 | chr5:177485000-177486000 | Enhancers | Thymus | Thymus |