Variant report
Variant | nsv869786 |
---|---|
Chromosome Location | chr14:46375858-46474208 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:277)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:2)
- 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 | CEBPB | chr14:46441175-46441403 | HepG2 | liver: | n/a | chr14:46441316-46441327 |
2 | CEBPB | chr14:46388507-46388949 | MCF-7 | breast: | n/a | chr14:46388709-46388720 |
3 | CEBPB | chr14:46388459-46388948 | MCF-7 | breast: | n/a | chr14:46388709-46388720 |
4 | CEBPB | chr14:46388540-46388874 | HepG2 | liver: | n/a | chr14:46388709-46388720 |
5 | CEBPB | chr14:46441158-46441496 | A549 | lung: | n/a | chr14:46441316-46441327 |
6 | CEBPB | chr14:46441220-46441420 | H1-hESC | embryonic stem cell: | n/a | chr14:46441316-46441327 |
7 | CEBPB | chr14:46388540-46388897 | IMR90 | lung: | n/a | chr14:46388709-46388720 |
8 | CEBPB | chr14:46388556-46388893 | A549 | lung: | n/a | chr14:46388709-46388720 |
9 | CTCF | chr14:46459560-46459710 | GM12874 | blood: | n/a | n/a |
10 | CTCF | chr14:46459520-46459670 | NHDF-neo | bronchial: | n/a | n/a |
11 | CTCF | chr14:46459660-46459810 | RPTEC | kidney: | n/a | n/a |
12 | CTCF | chr14:46459540-46459690 | MCF-7 | breast: | n/a | n/a |
13 | CTCF | chr14:46445768-46445938 | MCF-7 | breast: | n/a | n/a |
14 | CTCF | chr14:46459600-46459750 | HEK293 | kidney: | n/a | n/a |
15 | CTCF | chr14:46459560-46459710 | GM12864 | blood: | n/a | n/a |
16 | CTCF | chr14:46459631-46459756 | HUVEC | blood vessel: | n/a | n/a |
17 | CTCF | chr14:46459540-46459690 | HBMEC | blood vessel: | n/a | n/a |
18 | CTCF | chr14:46459640-46459790 | HCPEpiC | choroid plexus: | n/a | n/a |
19 | CTCF | chr14:46459500-46459650 | HFF | foreskin: | n/a | n/a |
20 | CTCF | chr14:46459600-46459750 | HRPEpiC | eye: | n/a | n/a |
21 | CTCF | chr14:46459620-46459770 | GM12871 | blood: | n/a | n/a |
22 | CTCF | chr14:46459563-46459809 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | CTCF | chr14:46459640-46459790 | BJ | skin: | n/a | n/a |
24 | CTCF | chr14:46459676-46459755 | Medullo | brain: | n/a | n/a |
25 | CTCF | chr14:46459580-46459730 | HMEC | breast: | n/a | n/a |
26 | CTCF | chr14:46459560-46459710 | GM12865 | blood: | n/a | n/a |
27 | CTCF | chr14:46459640-46459790 | HVMF | connective: | n/a | n/a |
28 | CTCF | chr14:46459640-46459790 | HPAF | blood vessel: | n/a | n/a |
29 | CTCF | chr14:46459660-46459810 | GM12878 | blood: | n/a | n/a |
30 | CTCF | chr14:46445789-46445934 | MCF-7 | breast: | n/a | n/a |
31 | CTCF | chr14:46459620-46459770 | AG04450 | lung: | n/a | n/a |
32 | CTCF | chr14:46459580-46459730 | HVMF | connective: | n/a | n/a |
33 | CTCF | chr14:46459440-46459730 | A549 | lung: | n/a | n/a |
34 | CTCF | chr14:46459640-46459790 | NHEK | skin: | n/a | n/a |
35 | CTCF | chr14:46459640-46459790 | GM12870 | blood: | n/a | n/a |
36 | CTCF | chr14:46459580-46459730 | Hela-S3 | cervix: | n/a | n/a |
37 | CTCF | chr14:46459660-46459810 | HRPEpiC | eye: | n/a | n/a |
38 | CTCF | chr14:46459660-46459810 | AG04450 | lung: | n/a | n/a |
39 | CTCF | chr14:46459560-46459710 | GM12875 | blood: | n/a | n/a |
40 | CTCF | chr14:46459640-46459790 | HPF | lung: | n/a | n/a |
41 | CTCF | chr14:46459920-46460070 | BE2_C | brain: | n/a | n/a |
42 | CTCF | chr14:46459560-46459710 | HUVEC | blood vessel: | n/a | n/a |
43 | CTCF | chr14:46409900-46410050 | GM06990 | blood: | n/a | n/a |
44 | CTCF | chr14:46459550-46459858 | GM12878 | blood: | n/a | n/a |
45 | CTCF | chr14:46459620-46459770 | HepG2 | liver: | n/a | n/a |
46 | CTCF | chr14:46459600-46459750 | NB4 | blood: | n/a | n/a |
47 | CTCF | chr14:46459426-46459843 | MCF-7 | breast: | n/a | n/a |
48 | CTCF | chr14:46459360-46459510 | WI-38 | lung: | n/a | n/a |
49 | CTCF | chr14:46446242-46446252 | GM13976 | blood: | n/a | n/a |
50 | CTCF | chr14:46446214-46446237 | GM13976 | blood: | n/a | n/a |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:46375125..46377270-chr14:46379726..46383333,3 | K562 | blood: | |
2 | chr12:122908054..122908892-chr14:46408991..46409734,2 | MCF-7 | breast: | |
3 | chr14:46308036..46308555-chr14:46409283..46409960,2 | MCF-7 | breast: | |
4 | chr14:46385119..46386937-chr14:46388253..46390395,2 | MCF-7 | breast: | |
5 | chr14:46375125..46377270-chr14:46379726..46383333,3 | K562 | blood: | |
6 | chr14:46385119..46386937-chr14:46388253..46390395,2 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FANCM-6 | chr14:46410146-46410221 | ENSG00000258700 |
2 | lnc-FANCM-9 | chr14:46376825-46376872 | NONHSAT036675 |
No data |
No data |
Variant related genes | Relation type |
---|---|
LINC00871 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs548669127 | chr14:46375887-46375888 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs550932551 | chr14:46375889-46375890 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs10872990 | chr14:46375923-46375924 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs536577090 | chr14:46375957-46375958 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs10872991 | chr14:46375984-46375985 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs566543128 | chr14:46376068-46376069 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs533905868 | chr14:46376090-46376091 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs8012625 | chr14:46376112-46376113 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs17116728 | chr14:46376152-46376153 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs544685151 | chr14:46376172-46376173 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs376484134 | chr14:46376173-46376174 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs556111126 | chr14:46376188-46376189 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs150761675 | chr14:46376193-46376194 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs10872992 | chr14:46376202-46376203 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs577895543 | chr14:46376223-46376224 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs139095121 | chr14:46376224-46376225 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs554074469 | chr14:46376239-46376240 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs545441367 | chr14:46376255-46376256 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs10872993 | chr14:46376259-46376260 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs149496376 | chr14:46376266-46376267 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs373077624 | chr14:46376267-46376268 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs569144860 | chr14:46376270-46376271 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs530198564 | chr14:46376276-46376277 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs548493718 | chr14:46376311-46376312 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs10872994 | chr14:46376326-46376327 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs145967043 | chr14:46376362-46376363 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs113716716 | chr14:46376388-46376389 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs398118149 | chr14:46376826-46376827 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
29 | rs146884393 | chr14:46376843-46376844 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
30 | rs548337563 | chr14:46376868-46376869 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
31 | rs560307759 | chr14:46376869-46376870 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
32 | rs148576876 | chr14:46376871-46376872 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
33 | rs183012796 | chr14:46385417-46385418 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs553136235 | chr14:46385493-46385494 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs534468837 | chr14:46385495-46385496 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs577603498 | chr14:46385501-46385502 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs140336063 | chr14:46385510-46385511 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs548279375 | chr14:46385534-46385535 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs557009553 | chr14:46385543-46385544 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs369945628 | chr14:46385562-46385563 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs117629254 | chr14:46385575-46385576 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs79160866 | chr14:46385608-46385609 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs72621076 | chr14:46385724-46385725 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs528423163 | chr14:46385778-46385779 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs554768401 | chr14:46385808-46385809 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs540512272 | chr14:46385821-46385822 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs564883395 | chr14:46385824-46385825 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs532097703 | chr14:46385836-46385837 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs376182818 | chr14:46385864-46385865 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs116574894 | chr14:46385896-46385897 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal cancer | 21851588 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Oral cancer | 21386901 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 17899364 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Chronic myeloid leukemia | 20724749 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Wilms tumour | 21544195 | CNVD |
Lung cancer | 18438408 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Breast cancer | 21785460 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 18632612 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 21858162 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Cancer | 21183584 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 19907438 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:46375000-46376400 | Enhancers | GM12878-XiMat | blood |
2 | chr14:46375200-46376000 | Enhancers | NHEK | skin |
3 | chr14:46385400-46386200 | Enhancers | Rectal Smooth Muscle | rectum |
4 | chr14:46385600-46385800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
5 | chr14:46385800-46388600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
6 | chr14:46388600-46390200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
7 | chr14:46389000-46389800 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
8 | chr14:46389000-46390000 | Enhancers | HMEC | breast |
9 | chr14:46389200-46390000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
10 | chr14:46389200-46390000 | Enhancers | NHEK | skin |
11 | chr14:46403800-46404400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
12 | chr14:46415200-46416800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
13 | chr14:46421000-46421600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
14 | chr14:46433200-46433600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
15 | chr14:46444600-46446200 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
16 | chr14:46445000-46446000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |