Variant report
Variant | nsv442275 |
---|---|
Chromosome Location | chr12:66963300-66971024 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:16)
- CpG islands (count:122)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:16 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr12:66968471-66968686 | H1-hESC | embryonic stem cell: | n/a | n/a |
2 | EBF1 | chr12:66967474-66967727 | GM12878 | blood: | n/a | n/a |
3 | FOS | chr12:66970593-66970661 | MCF10A-Er-Src | breast: | n/a | n/a |
4 | MAFF | chr12:66966704-66966912 | HepG2 | liver: | n/a | n/a |
5 | MAFK | chr12:66966702-66966926 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | MAFK | chr12:66966668-66966974 | HepG2 | liver: | n/a | n/a |
7 | MAFK | chr12:66966732-66966966 | HepG2 | liver: | n/a | n/a |
8 | MAFK | chr12:66966641-66967001 | IMR90 | lung: | n/a | n/a |
9 | NFYB | chr12:66970452-66970488 | GM12878 | blood: | n/a | n/a |
10 | POLR2A | chr12:66968774-66968821 | ProgFib | skin: | n/a | n/a |
11 | POLR2A | chr12:66967449-66967614 | Gliobla | brain: | n/a | n/a |
12 | POLR2A | chr12:66967575-66967655 | A549 | lung: | n/a | n/a |
13 | POLR2A | chr12:66969025-66969028 | MCF10A-Er-Src | breast: | n/a | n/a |
14 | STAT3 | chr12:66969915-66970072 | MCF10A-Er-Src | breast: | n/a | n/a |
15 | TCF12 | chr12:66967448-66967688 | GM12878 | blood: | n/a | n/a |
16 | TCF3 | chr12:66967405-66967688 | GM12878 | blood: | n/a | chr12:66967603-66967612 chr12:66967517-66967526 chr12:66967600-66967615 chr12:66967514-66967529 chr12:66967600-66967616 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:66965641-66965691 | PrEC | prostate: | n/a |
2 | chr12:66965641-66965691 | HUVEC | blood vessel: | n/a |
3 | chr12:66965641-66965691 | AG09309 | skin: | n/a |
4 | chr12:66965991-66966041 | AoSMC | blood vessel: | n/a |
5 | chr12:66965991-66966041 | HUVEC | blood vessel: | n/a |
6 | chr12:66965991-66966041 | GM12891 | blood: | n/a |
7 | chr12:66965641-66965691 | GM19239 | blood: | n/a |
8 | chr12:66965991-66966041 | SKMC | muscle: | n/a |
9 | chr12:66965991-66966041 | PrEC | prostate: | n/a |
10 | chr12:66965991-66966041 | HCPEpiC | choroid plexus: | n/a |
11 | chr12:66965991-66966041 | BJ | skin: | n/a |
12 | chr12:66965991-66966041 | AG04449 | skin: | fetal |
13 | chr12:66965641-66965691 | GM12891 | blood: | n/a |
14 | chr12:66965641-66965691 | HRPEpiC | eye: | n/a |
15 | chr12:66965641-66965691 | PFSK-1 | brain: | n/a |
16 | chr12:66965991-66966041 | K562 | blood: | n/a |
17 | chr12:66965641-66965691 | SK-N-SH_RA | brain: | n/a |
18 | chr12:66965991-66966041 | BE2_C | brain: | n/a |
19 | chr12:66965641-66965691 | HEEpiC | esophagus: | n/a |
20 | chr12:66965991-66966041 | PFSK-1 | brain: | n/a |
21 | chr12:66965641-66965691 | LNCaP | prostate: | n/a |
22 | chr12:66965991-66966041 | GM12878 | blood: | n/a |
23 | chr12:66965991-66966041 | HCT-116 | colon: | n/a |
24 | chr12:66965991-66966041 | A549 | lung: | n/a |
25 | chr12:66965641-66965691 | MCF10A-Er-Src | breast: | n/a |
26 | chr12:66965991-66966041 | AG10803 | skin: | n/a |
27 | chr12:66965991-66966041 | HL-60 | blood: | n/a |
28 | chr12:66965991-66966041 | SK-N-MC | brain: | n/a |
29 | chr12:66965641-66965691 | HL-60 | blood: | n/a |
30 | chr12:66965641-66965691 | HEK293 | kidney: | embryo |
31 | chr12:66965991-66966041 | PANC-1 | pancreas: | n/a |
32 | chr12:66965991-66966041 | SK-N-SH | brain: | n/a |
33 | chr12:66965641-66965691 | T-47D | breast: | n/a |
34 | chr12:66965641-66965691 | Jurkat | blood: | n/a |
35 | chr12:66965991-66966041 | SAEC | small airway: | n/a |
36 | chr12:66965641-66965691 | CMK | blood: | n/a |
37 | chr12:66965991-66966041 | MCF10A-Er-Src | breast: | n/a |
38 | chr12:66965641-66965691 | HCF | heart: | n/a |
39 | chr12:66965991-66966041 | HPAEpiC | pulmonary alveolar: | n/a |
40 | chr12:66965991-66966041 | NT2-D1 | testis: | n/a |
41 | chr12:66965641-66965691 | ECC-1 | luminal epithelium: | n/a |
42 | chr12:66965991-66966041 | GM12892 | blood: | n/a |
43 | chr12:66965991-66966041 | SK-N-SH_RA | brain: | n/a |
44 | chr12:66965991-66966041 | Hela-S3 | cervix: | n/a |
45 | chr12:66965991-66966041 | U87 | brain: | n/a |
46 | chr12:66965991-66966041 | NHBE | bronchial: | n/a |
47 | chr12:66965991-66966041 | HMEC | breast: | n/a |
48 | chr12:66965641-66965691 | Caco-2 | colon: | n/a |
49 | chr12:66965991-66966041 | H1-hESC | embryonic stem cell: | embryo |
50 | chr12:66965991-66966041 | Hepatocyte | liver: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
GRIP1 | TF binding region |
OSBPL9P4 | TF binding region |
GRIP1 | CpG island |
OSBPL9P4 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs181478141 | chr12:66963336-66963337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs111568550 | chr12:66963352-66963353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs186593347 | chr12:66963370-66963371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs12313212 | chr12:66963373-66963374 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs559397508 | chr12:66963394-66963395 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs191138719 | chr12:66963404-66963405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs182295973 | chr12:66963413-66963414 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs563409118 | chr12:66963481-66963482 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs185022653 | chr12:66963498-66963499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs549210809 | chr12:66963533-66963534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs551578923 | chr12:66963581-66963582 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs528396534 | chr12:66963588-66963589 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs137863402 | chr12:66963633-66963634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs12319603 | chr12:66963645-66963646 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs189582193 | chr12:66963658-66963659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs557019402 | chr12:66963678-66963679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs569373451 | chr12:66963687-66963688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs536444441 | chr12:66963734-66963735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs114858604 | chr12:66963752-66963753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs73323155 | chr12:66963769-66963770 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs141632800 | chr12:66963795-66963796 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs12321077 | chr12:66963804-66963805 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs577688814 | chr12:66963828-66963829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs545064417 | chr12:66963881-66963882 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs532213305 | chr12:66963884-66963885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs72245505 | chr12:66963885-66963886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs568013046 | chr12:66963888-66963889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs563236695 | chr12:66963895-66963896 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs148474843 | chr12:66963896-66963897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs58598900 | chr12:66963907-66963908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs10878453 | chr12:66963935-66963936 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs542419462 | chr12:66963952-66963953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs372200967 | chr12:66963955-66963956 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs561152281 | chr12:66963980-66963981 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs10878454 | chr12:66963989-66963990 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs546469764 | chr12:66964042-66964043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs150579172 | chr12:66964102-66964103 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs12307899 | chr12:66964152-66964153 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs550606199 | chr12:66964201-66964202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs183359801 | chr12:66964328-66964329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs536759914 | chr12:66964514-66964515 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs139983044 | chr12:66964523-66964524 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs536979690 | chr12:66964542-66964543 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs376680105 | chr12:66964543-66964544 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs12321492 | chr12:66964559-66964560 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs12321495 | chr12:66964574-66964575 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs368576825 | chr12:66964580-66964581 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs143510519 | chr12:66964591-66964592 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs113119271 | chr12:66964592-66964593 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs577660455 | chr12:66964605-66964606 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Autism | 22495311 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | 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 |
Lung cancer | 18438408 | CNVD |
Breast cancer | 17899364 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
liposarcomas | 17372913 | CNVD |
Non-small cell lung cancer | 24170126 | CNVD |
Cancer | 16751803 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 21785460 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Melanoma | 18172304 | CNVD |
Glioblastoma multiforme | 21390271 | CNVD |
Cancer | 20164919 | CNVD |
Leukemia | 18628472 | CNVD |
Fibroblasts | 20926602 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Lung cancer | 16773561 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Mental retardation | 17220210 | CNVD |
Osteopoikilosis | 17220210 | CNVD |
short stature | 17220210 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
abnormal development | 18461090 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Breast cancer | 16620391 | CNVD |
Neuroticism | 17667963 | CNVD |
Breast cancer | 21364760 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Breast cancer | 22048815 | CNVD |
Congenital anomalies of the kidney and urinary tract | 21113617 | CNVD |
Glioblastoma multiforme | 22291905 | CNVD |
Glioblastoma multiforme | 19435819 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Lung cancer | 17925434 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Disease | 21505450 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:66962600-66964000 | Weak transcription | Fetal Brain Female | brain |
2 | chr12:66962800-66981400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr12:66964800-66965800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
4 | chr12:66965000-66965800 | Enhancers | Brain Angular Gyrus | brain |