Variant report
Variant | nsv558603 |
---|---|
Chromosome Location | chr12:40809387-40825487 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:25)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:18)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:25 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr12:40818598-40818846 | IMR90 | lung: | n/a | chr12:40818717-40818728 |
2 | CEBPB | chr12:40818440-40818848 | A549 | lung: | n/a | chr12:40818529-40818540 chr12:40818717-40818728 |
3 | CEBPB | chr12:40818440-40818807 | HepG2 | liver: | n/a | chr12:40818529-40818540 chr12:40818717-40818728 |
4 | CTCF | chr12:40823200-40823350 | HPAF | blood vessel: | n/a | n/a |
5 | E2F4 | chr12:40818494-40818875 | MCF10A-Er-Src | breast: | n/a | n/a |
6 | E2F4 | chr12:40815772-40816219 | MCF10A-Er-Src | breast: | n/a | n/a |
7 | E2F4 | chr12:40821967-40822010 | MCF10A-Er-Src | breast: | n/a | n/a |
8 | GATA3 | chr12:40810161-40810625 | MCF-7 | breast: | n/a | n/a |
9 | MAFF | chr12:40825060-40825300 | K562 | blood: | n/a | chr12:40825154-40825172 |
10 | MAFF | chr12:40825007-40825334 | HepG2 | liver: | n/a | chr12:40825154-40825172 |
11 | MAFK | chr12:40825051-40825231 | K562 | blood: | n/a | chr12:40825156-40825171 chr12:40825157-40825168 chr12:40825157-40825168 chr12:40825155-40825169 |
12 | MAFK | chr12:40825008-40825332 | HepG2 | liver: | n/a | chr12:40825156-40825171 chr12:40825157-40825168 chr12:40825157-40825168 chr12:40825155-40825169 |
13 | MAFK | chr12:40811655-40811801 | HepG2 | liver: | n/a | n/a |
14 | MAFK | chr12:40824998-40825331 | HepG2 | liver: | n/a | chr12:40825156-40825171 chr12:40825157-40825168 chr12:40825157-40825168 chr12:40825155-40825169 |
15 | MAFK | chr12:40825018-40825291 | IMR90 | lung: | n/a | chr12:40825156-40825171 chr12:40825157-40825168 chr12:40825157-40825168 chr12:40825155-40825169 |
16 | MAFK | chr12:40825055-40825278 | Hela-S3 | cervix: | n/a | chr12:40825156-40825171 chr12:40825157-40825168 chr12:40825157-40825168 chr12:40825155-40825169 |
17 | MYC | chr12:40821112-40821194 | Hela-S3 | cervix: | n/a | n/a |
18 | MYC | chr12:40821207-40821299 | K562 | blood: | n/a | n/a |
19 | POLR2A | chr12:40818255-40818307 | GM12878 | blood: | n/a | n/a |
20 | POLR2A | chr12:40823652-40823772 | MCF10A-Er-Src | breast: | n/a | n/a |
21 | POLR2A | chr12:40822654-40822775 | MCF10A-Er-Src | breast: | n/a | n/a |
22 | POLR2A | chr12:40825175-40825405 | K562 | blood: | n/a | n/a |
23 | POLR2A | chr12:40818471-40818628 | MCF10A-Er-Src | breast: | n/a | n/a |
24 | STAT3 | chr12:40809708-40809713 | MCF10A-Er-Src | breast: | n/a | n/a |
25 | STAT3 | chr12:40813810-40814010 | MCF10A-Er-Src | breast: | n/a | n/a |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | 12:40793507-40812339..12:40836437-40839614 | H1-hESC | embryonic stem cell: | embryo |
(count:18 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-MUC19-1 | chr12:40815642-40815702 | NONHSAT027728 |
2 | lnc-MUC19-1 | chr12:40821772-40821895 | NONHSAT027728 |
3 | lnc-MUC19-1 | chr12:40821176-40821298 | NONHSAT027728 |
4 | lnc-MUC19-1 | chr12:40812976-40813035 | NONHSAT027728 |
5 | lnc-SLC2A13-3 | chr12:40814022-40814118 | XLOC_010054 |
6 | lnc-MUC19-1 | chr12:40820209-40820419 | NONHSAT027728 |
7 | lnc-SLC2A13-3 | chr12:40814022-40814113 | ENSG00000258167.1 |
8 | lnc-MUC19-1 | chr12:40815906-40816003 | NONHSAT027728 |
9 | lnc-SLC2A13-3 | chr12:40814022-40814113 | XLOC_010054 |
10 | lnc-MUC19-1 | chr12:40811932-40811982 | NONHSAT027728 |
11 | lnc-SLC2A13-3 | chr12:40810105-40810240 | XLOC_010054 |
12 | lnc-SLC2A13-3 | chr12:40814022-40814118 | XLOC_010054 |
13 | lnc-SLC2A13-3 | chr12:40810105-40810240 | XLOC_010054 |
14 | lnc-SLC2A13-3 | chr12:40810103-40810240 | XLOC_010054 |
15 | lnc-MUC19-1 | chr12:40823344-40823479 | NONHSAT027728 |
16 | lnc-MUC19-1 | chr12:40825428-40825520 | NONHSAT027728 |
17 | lnc-MUC19-1 | chr12:40814009-40814237 | NONHSAT027728 |
18 | lnc-MUC19-1 | chr12:40815015-40815125 | NONHSAT027728 |
No data |
No data |
Variant related genes | Relation type |
---|---|
MUC19 | TF binding region |
ENSG00000258167 | chromatin interactions |
SEC23IP | miRNA target sites |
BLOC1S3 | miRNA target sites |
MORF4L1 | miRNA target sites |
STXBP3 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7136122 | chr12:40809387-40809388 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs548689883 | chr12:40809418-40809419 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs566888043 | chr12:40809435-40809436 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs17467137 | chr12:40809502-40809503 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs546465774 | chr12:40809504-40809505 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs17521019 | chr12:40809506-40809507 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs145124049 | chr12:40809524-40809525 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs557074155 | chr12:40809535-40809536 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs73101528 | chr12:40809540-40809541 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs536712499 | chr12:40809550-40809551 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs547976954 | chr12:40809639-40809640 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs373158520 | chr12:40809686-40809687 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs187112510 | chr12:40809694-40809695 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs376648401 | chr12:40809696-40809697 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs191038376 | chr12:40809703-40809704 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs11564171 | chr12:40809706-40809707 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs11564253 | chr12:40809750-40809751 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs577424048 | chr12:40809769-40809770 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs138997471 | chr12:40809830-40809831 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs563070236 | chr12:40809886-40809887 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs530246411 | chr12:40809889-40809890 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs542295792 | chr12:40809953-40809954 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs142268259 | chr12:40809983-40809984 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs528071263 | chr12:40809987-40809988 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs546228683 | chr12:40810022-40810023 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs562916804 | chr12:40810049-40810050 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs571160418 | chr12:40810101-40810102 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs183347939 | chr12:40810107-40810108 | Weak transcription | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs143377635 | chr12:40810109-40810110 | Weak transcription | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs550618875 | chr12:40810111-40810112 | Weak transcription | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs187433538 | chr12:40810132-40810133 | Weak transcription | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs536478609 | chr12:40810140-40810141 | Weak transcription | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs377640287 | chr12:40810145-40810146 | Weak transcription | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs369743721 | chr12:40810148-40810149 | Weak transcription | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs17467144 | chr12:40810161-40810162 | Weak transcription | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs150075641 | chr12:40810175-40810176 | Weak transcription | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
37 | rs117237084 | chr12:40810177-40810178 | Weak transcription | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs577188124 | chr12:40810199-40810200 | Weak transcription | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs118081441 | chr12:40810213-40810214 | Weak transcription | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
40 | rs116946443 | chr12:40810238-40810239 | Weak transcription | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs138387253 | chr12:40810250-40810251 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs191053465 | chr12:40810253-40810254 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs17521026 | chr12:40810276-40810277 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs78340427 | chr12:40810332-40810333 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs182432220 | chr12:40810345-40810346 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs564864454 | chr12:40810362-40810363 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs532046374 | chr12:40810408-40810409 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs144495455 | chr12:40810453-40810454 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
49 | rs569106007 | chr12:40810468-40810469 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs187817823 | chr12:40810480-40810481 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Seminomas | 18059402 | CNVD |
Wilms tumour | 21544195 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 20164919 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Breast cancer | 21949216 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 21637783 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 17603634 | CNVD |
Cancer | 21183584 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Lissencephaly | 21572526 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Autism | 20858243 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Breast cancer | 19602461 | CNVD |
Breast cancer | 17899364 | CNVD |
Cancer | 20164920 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:40799600-40813200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr12:40813200-40813400 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |