Variant report
Variant | nsv438203 |
---|---|
Chromosome Location | chr12:33726403-33734783 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:35)
- CpG islands (count:0)
- Chromatin interactive region (count:10)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:35 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | BHLHE40 | chr12:33734583-33735390 | GM12878 | blood: | n/a | n/a |
2 | CHD2 | chr12:33734716-33734999 | GM12878 | blood: | n/a | n/a |
3 | CTCF | chr12:33728340-33728490 | HMEC | breast: | n/a | n/a |
4 | CTCF | chr12:33728380-33728530 | HRPEpiC | eye: | n/a | n/a |
5 | CTCF | chr12:33728380-33728530 | GM12874 | blood: | n/a | n/a |
6 | CTCF | chr12:33728380-33728530 | SAEC | small airway: | n/a | n/a |
7 | CTCF | chr12:33730491-33730573 | GM13976 | blood: | n/a | n/a |
8 | CTCF | chr12:33728420-33728570 | GM12866 | blood: | n/a | n/a |
9 | CTCF | chr12:33730147-33730156 | HepG2 | liver: | n/a | n/a |
10 | CTCF | chr12:33728436-33728472 | GM12878 | blood: | n/a | n/a |
11 | CTCF | chr12:33728334-33728660 | GM12878 | blood: | n/a | n/a |
12 | CTCF | chr12:33728391-33728597 | K562 | blood: | n/a | n/a |
13 | EP300 | chr12:33734626-33734854 | GM12878 | blood: | n/a | n/a |
14 | EP300 | chr12:33734584-33734894 | SK-N-SH_RA | brain: | n/a | n/a |
15 | EP300 | chr12:33734568-33734921 | SK-N-SH_RA | brain: | n/a | n/a |
16 | EP300 | chr12:33734570-33734996 | GM12878 | blood: | n/a | n/a |
17 | EP300 | chr12:33734575-33734967 | GM12878 | blood: | n/a | n/a |
18 | IRF1 | chr12:33728490-33728508 | K562 | blood: | n/a | n/a |
19 | JUN | chr12:33734761-33734918 | K562 | blood: | n/a | n/a |
20 | KAP1 | chr12:33733183-33733582 | K562 | blood: | n/a | n/a |
21 | MAFK | chr12:33726706-33726796 | HepG2 | liver: | n/a | n/a |
22 | MXI1 | chr12:33734649-33734953 | GM12878 | blood: | n/a | n/a |
23 | NRF1 | chr12:33734781-33734868 | GM12878 | blood: | n/a | n/a |
24 | POLR2A | chr12:33733617-33733810 | MCF10A-Er-Src | breast: | n/a | n/a |
25 | POLR2A | chr12:33726426-33726863 | H1-neurons | neurons: | n/a | n/a |
26 | POLR2A | chr12:33728475-33728490 | MCF-7 | breast: | n/a | n/a |
27 | RAD21 | chr12:33728256-33728722 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | RAD21 | chr12:33728317-33728671 | H1-hESC | embryonic stem cell: | n/a | n/a |
29 | RAD21 | chr12:33728311-33728639 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | RAD21 | chr12:33728386-33728546 | GM12878 | blood: | n/a | n/a |
31 | RAD21 | chr12:33728378-33728543 | GM12878 | blood: | n/a | n/a |
32 | STAT3 | chr12:33730226-33730362 | MCF10A-Er-Src | breast: | n/a | n/a |
33 | TAL1 | chr12:33734768-33734907 | K562 | blood: | n/a | n/a |
34 | ZNF143 | chr12:33728414-33728552 | GM12878 | blood: | n/a | n/a |
35 | ZNF274 | chr12:33734183-33734755 | K562 | blood: | n/a | n/a |
No data |
(count:10 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:33734204..33736505-chr12:33740513..33742206,2 | K562 | blood: | |
2 | chr12:33724218..33727073-chr12:33731146..33732945,2 | MCF-7 | breast: | |
3 | chr12:33721763..33724607-chr12:33725779..33728514,2 | MCF-7 | breast: | |
4 | chr12:33719195..33722497-chr12:33723252..33727386,3 | MCF-7 | breast: | |
5 | chr12:33724218..33727073-chr12:33731146..33732945,2 | MCF-7 | breast: | |
6 | chr12:33667255..33668975-chr12:33733951..33735986,2 | MCF-7 | breast: | |
7 | chr12:33732468..33735660-chr12:33738194..33740414,4 | MCF-7 | breast: | |
8 | chr12:33730883..33732707-chr12:33745155..33746710,2 | MCF-7 | breast: | |
9 | chr12:33726328..33728110-chr12:33734687..33736717,2 | MCF-7 | breast: | |
10 | chr12:33726328..33728110-chr12:33734687..33736717,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
RNU6-400P | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs183462953 | chr12:33726431-33726432 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs861526 | chr12:33726434-33726435 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs556859219 | chr12:33726455-33726456 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs815047 | chr12:33726459-33726460 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs375095900 | chr12:33726473-33726474 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs561834145 | chr12:33726475-33726476 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs535625066 | chr12:33726478-33726479 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs11052762 | chr12:33726578-33726579 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs550782761 | chr12:33726708-33726709 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs187645000 | chr12:33726735-33726736 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs815048 | chr12:33726748-33726749 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
12 | rs815049 | chr12:33726757-33726758 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs75525033 | chr12:33726771-33726772 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs115011492 | chr12:33726815-33726816 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs1873017 | chr12:33726816-33726817 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs575830692 | chr12:33726834-33726835 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs192502104 | chr12:33726861-33726862 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs146711391 | chr12:33728273-33728274 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs7954535 | chr12:33728330-33728331 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs550949290 | chr12:33728376-33728377 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs140413012 | chr12:33728377-33728378 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs143586587 | chr12:33728379-33728380 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs548087874 | chr12:33728417-33728418 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs567718471 | chr12:33728429-33728430 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs377308987 | chr12:33728432-33728433 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs556844708 | chr12:33728443-33728444 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs555839926 | chr12:33728477-33728478 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs369659278 | chr12:33728482-33728483 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs34541470 | chr12:33728555-33728556 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs147987581 | chr12:33728629-33728630 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs111939504 | chr12:33728632-33728633 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs201337922 | chr12:33728640-33728641 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs143052123 | chr12:33733202-33733203 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs544542481 | chr12:33733219-33733220 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs708139 | chr12:33733265-33733266 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs147759275 | chr12:33733279-33733280 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs708138 | chr12:33733313-33733314 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs560182094 | chr12:33733317-33733318 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs528986285 | chr12:33733447-33733448 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs185932859 | chr12:33733450-33733451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs141239750 | chr12:33733469-33733470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs146948571 | chr12:33733556-33733557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs370277445 | chr12:33733568-33733569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs531850692 | chr12:33733599-33733600 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs12579179 | chr12:33733675-33733676 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs10743824 | chr12:33733764-33733765 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs534402239 | chr12:33733773-33733774 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs141540164 | chr12:33733807-33733808 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs74410810 | chr12:33733811-33733812 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs567748349 | chr12:33733832-33733833 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Testicular cancer | 18059402 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Seminomas | 18059402 | 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 |
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 |
Breast cancer | 21509527 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Cancer | 21129771 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 17133270 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Chordoma | 18071362 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 21272361 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Breast cancer | 21364760 | CNVD |
Bipolar disorder | 19114987 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:33733200-33741400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr12:33733800-33735600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
3 | chr12:33733800-33736000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
4 | chr12:33734400-33734800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
5 | chr12:33734600-33735200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
6 | chr12:33734600-33735400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |