Variant report
Variant | nsv8589 |
---|---|
Chromosome Location | chr9:141018937-141029038 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:242)
- CpG islands (count:61)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- 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 | ATF3 | chr9:141020637-141020864 | K562 | blood: | n/a | n/a |
2 | ATF3 | chr9:141020689-141020889 | GM12878 | blood: | n/a | n/a |
3 | ATF3 | chr9:141020692-141020855 | GM12878 | blood: | n/a | n/a |
4 | BATF | chr9:141023409-141023594 | GM12878 | blood: | n/a | n/a |
5 | BATF | chr9:141020609-141020912 | GM12878 | blood: | n/a | n/a |
6 | BCL11A | chr9:141023414-141023612 | GM12878 | blood: | n/a | n/a |
7 | CBX3 | chr9:141023334-141023686 | K562 | blood: | n/a | n/a |
8 | CBX3 | chr9:141020423-141021627 | K562 | blood: | n/a | n/a |
9 | CBX3 | chr9:141020180-141021846 | K562 | blood: | n/a | n/a |
10 | CBX3 | chr9:141023337-141023724 | K562 | blood: | n/a | n/a |
11 | CEBPB | chr9:141020616-141021529 | K562 | blood: | n/a | n/a |
12 | CEBPB | chr9:141021040-141021243 | GM12878 | blood: | n/a | n/a |
13 | CEBPB | chr9:141020799-141021006 | GM12878 | blood: | n/a | n/a |
14 | CEBPB | chr9:141020544-141021559 | GM12878 | blood: | n/a | n/a |
15 | CEBPD | chr9:141027620-141027978 | K562 | blood: | n/a | n/a |
16 | CTCF | chr9:141020700-141020850 | GM12868 | blood: | n/a | n/a |
17 | CTCF | chr9:141020700-141020850 | GM12867 | blood: | n/a | n/a |
18 | CTCF | chr9:141026714-141026804 | MCF-7 | breast: | n/a | n/a |
19 | CTCF | chr9:141021749-141021805 | GM12878 | blood: | n/a | n/a |
20 | CTCF | chr9:141020680-141020830 | GM12874 | blood: | n/a | n/a |
21 | CTCF | chr9:141021910-141021993 | GM19240 | blood: | n/a | n/a |
22 | CTCF | chr9:141022267-141022338 | GM19240 | blood: | n/a | n/a |
23 | CTCF | chr9:141022346-141022463 | GM10266 | blood: | n/a | n/a |
24 | CTCF | chr9:141020600-141020750 | GM12870 | blood: | n/a | n/a |
25 | CTCF | chr9:141020460-141021840 | K562 | blood: | n/a | n/a |
26 | CTCF | chr9:141020680-141020830 | HCPEpiC | choroid plexus: | n/a | n/a |
27 | CTCF | chr9:141020400-141020550 | GM12875 | blood: | n/a | n/a |
28 | CTCF | chr9:141020700-141020850 | NB4 | blood: | n/a | n/a |
29 | CTCF | chr9:141020440-141020590 | GM12870 | blood: | n/a | n/a |
30 | CTCF | chr9:141020640-141020857 | HepG2 | liver: | n/a | n/a |
31 | CTCF | chr9:141020700-141020850 | GM12871 | blood: | n/a | n/a |
32 | CTCF | chr9:141020680-141020830 | GM12864 | blood: | n/a | n/a |
33 | CTCF | chr9:141020687-141020903 | T-47D | breast: | n/a | n/a |
34 | CTCF | chr9:141020684-141020877 | T-47D | breast: | n/a | n/a |
35 | CTCF | chr9:141020380-141020530 | GM12865 | blood: | n/a | n/a |
36 | CTCF | chr9:141026700-141026850 | GM12865 | blood: | n/a | n/a |
37 | CTCF | chr9:141020887-141021084 | ECC-1 | luminal epithelium: | n/a | n/a |
38 | CTCF | chr9:141021155-141021346 | HepG2 | liver: | n/a | n/a |
39 | CTCF | chr9:141021191-141021310 | HepG2 | liver: | n/a | n/a |
40 | CTCF | chr9:141020400-141020550 | GM12867 | blood: | n/a | n/a |
41 | CTCF | chr9:141020151-141022133 | K562 | blood: | n/a | n/a |
42 | CTCF | chr9:141020680-141020830 | RPTEC | kidney: | n/a | n/a |
43 | CTCF | chr9:141020670-141021587 | A549 | lung: | n/a | n/a |
44 | CTCF | chr9:141020680-141020830 | GM12865 | blood: | n/a | n/a |
45 | CTCF | chr9:141020680-141020830 | K562 | blood: | n/a | n/a |
46 | CTCF | chr9:141020420-141020570 | GM12873 | blood: | n/a | n/a |
47 | CTCF | chr9:141020681-141021107 | HepG2 | liver: | n/a | n/a |
48 | CTCF | chr9:141026700-141026850 | HEK293 | kidney: | n/a | n/a |
49 | CTCF | chr9:141020680-141020830 | HEK293 | kidney: | n/a | n/a |
50 | CTCF | chr9:141027792-141027844 | GM10266 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr9:141022253-141022303 | GM06990 | blood: | n/a |
2 | chr9:141022253-141022303 | PrEC | prostate: | n/a |
3 | chr9:141022253-141022303 | K562 | blood: | n/a |
4 | chr9:141022253-141022303 | GM12891 | blood: | n/a |
5 | chr9:141022253-141022303 | Caco-2 | colon: | n/a |
6 | chr9:141022253-141022303 | PANC-1 | pancreas: | n/a |
7 | chr9:141022253-141022303 | AG09309 | skin: | n/a |
8 | chr9:141022253-141022303 | AG04449 | skin: | fetal |
9 | chr9:141022253-141022303 | AG04450 | lung: | fetal |
10 | chr9:141022253-141022303 | AG10803 | skin: | n/a |
11 | chr9:141022253-141022303 | HPAEpiC | pulmonary alveolar: | n/a |
12 | chr9:141022253-141022303 | PFSK-1 | brain: | n/a |
13 | chr9:141022253-141022303 | HAEpiC | amniotic membrane: | n/a |
14 | chr9:141022253-141022303 | SK-N-SH_RA | brain: | n/a |
15 | chr9:141022253-141022303 | SKMC | muscle: | n/a |
16 | chr9:141022253-141022303 | HEEpiC | esophagus: | n/a |
17 | chr9:141022253-141022303 | HL-60 | blood: | n/a |
18 | chr9:141022253-141022303 | HIPEpiC | eye: | n/a |
19 | chr9:141022253-141022303 | AoSMC | blood vessel: | n/a |
20 | chr9:141022253-141022303 | H1-hESC | embryonic stem cell: | embryo |
21 | chr9:141022253-141022303 | ProgFib | skin: | n/a |
22 | chr9:141022253-141022303 | HCPEpiC | choroid plexus: | n/a |
23 | chr9:141022253-141022303 | HRCEpiC | kidney: | n/a |
24 | chr9:141022253-141022303 | HCM | heart: | n/a |
25 | chr9:141022253-141022303 | HEK293 | kidney: | embryo |
26 | chr9:141022253-141022303 | CMK | blood: | n/a |
27 | chr9:141022253-141022303 | HepG2 | liver: | n/a |
28 | chr9:141022253-141022303 | U87 | brain: | n/a |
29 | chr9:141022253-141022303 | AG09319 | gingival: | n/a |
30 | chr9:141022253-141022303 | IMR90 | lung: | fetal |
31 | chr9:141022253-141022303 | MCF10A-Er-Src | breast: | n/a |
32 | chr9:141022253-141022303 | HCT-116 | colon: | n/a |
33 | chr9:141022253-141022303 | NH-A | brain: | n/a |
34 | chr9:141022253-141022303 | GM19239 | blood: | n/a |
35 | chr9:141022253-141022303 | HCF | heart: | n/a |
36 | chr9:141022253-141022303 | HNPCEpiC | eye: | n/a |
37 | chr9:141022253-141022303 | ovcar-3 | ovarian: | n/a |
38 | chr9:141022253-141022303 | T-47D | breast: | n/a |
39 | chr9:141022253-141022303 | NHBE | bronchial: | n/a |
40 | chr9:141022253-141022303 | ECC-1 | luminal epithelium: | n/a |
41 | chr9:141022253-141022303 | SAEC | small airway: | n/a |
42 | chr9:141022253-141022303 | HMEC | breast: | n/a |
43 | chr9:141022253-141022303 | NT2-D1 | testis: | n/a |
44 | chr9:141022253-141022303 | BE2_C | brain: | n/a |
45 | chr9:141022253-141022303 | HUVEC | blood vessel: | n/a |
46 | chr9:141022253-141022303 | NB4 | blood: | n/a |
47 | chr9:141022253-141022303 | A549 | lung: | n/a |
48 | chr9:141022253-141022303 | LNCaP | prostate: | n/a |
49 | chr9:141022253-141022303 | Jurkat | blood: | n/a |
50 | chr9:141022253-141022303 | GM12878 | blood: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000229926 | TF binding region |
ENSG00000229926 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs202199199 | chr9:141018974-141018975 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs200216459 | chr9:141019025-141019026 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs201023127 | chr9:141019028-141019029 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs201872504 | chr9:141019059-141019060 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs200282797 | chr9:141019061-141019062 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs201517985 | chr9:141019082-141019083 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs199516803 | chr9:141019087-141019088 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs59355635 | chr9:141019088-141019089 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs201490962 | chr9:141019109-141019110 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs199664992 | chr9:141019126-141019127 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs72770922 | chr9:141019175-141019176 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs112555927 | chr9:141019177-141019178 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs72055790 | chr9:141019178-141019179 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs34273760 | chr9:141019192-141019193 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs60279461 | chr9:141019194-141019195 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs550121900 | chr9:141019219-141019220 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs543846800 | chr9:141019241-141019242 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs111392664 | chr9:141019257-141019258 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs549016554 | chr9:141019272-141019273 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs186338758 | chr9:141019273-141019274 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs12004659 | chr9:141019315-141019316 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
22 | rs9695260 | chr9:141019317-141019318 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
23 | rs571588953 | chr9:141019332-141019333 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs147257449 | chr9:141019345-141019346 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs557238405 | chr9:141019367-141019368 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs573649174 | chr9:141019386-141019387 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs542657813 | chr9:141019412-141019413 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs553421170 | chr9:141019419-141019420 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs9414686 | chr9:141019422-141019423 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs34806902 | chr9:141019427-141019428 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs564098050 | chr9:141019496-141019497 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs533177459 | chr9:141019524-141019525 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs551998089 | chr9:141019569-141019570 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs571641660 | chr9:141019580-141019581 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs574996177 | chr9:141019585-141019586 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs9969819 | chr9:141019593-141019594 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs563579225 | chr9:141019611-141019612 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs9414685 | chr9:141019618-141019619 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
39 | rs371600695 | chr9:141019620-141019621 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs182433872 | chr9:141019668-141019669 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs565754292 | chr9:141019681-141019682 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs9969822 | chr9:141019705-141019706 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs9969793 | chr9:141019766-141019767 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs114770359 | chr9:141019771-141019772 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs551478849 | chr9:141019789-141019790 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs143393325 | chr9:141019791-141019792 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs537248829 | chr9:141019796-141019797 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs550857466 | chr9:141019799-141019800 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs567657635 | chr9:141019880-141019881 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs557371654 | chr9:141019910-141019911 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Leukemia | 17361228 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Glioblastoma | 16823260 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Cardiac fibroma | 18329553 | CNVD |
Lung cancer | 19147751 | CNVD |
Cervical cancer | 17311676 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Gastric cancer | 17908304 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
Chordoma | 18071362 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Tuberous sclerosis | 19566914 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Mantle cell lymphoma | 19029149 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:140988200-141044600 | Weak transcription | Right Atrium | heart |
2 | chr9:141012600-141022200 | Weak transcription | Brain Angular Gyrus | brain |
3 | chr9:141016800-141019000 | Weak transcription | Brain Cingulate Gyrus | brain |
4 | chr9:141017400-141019000 | Weak transcription | Brain Anterior Caudate | brain |
5 | chr9:141017400-141019000 | Weak transcription | Brain Inferior Temporal Lobe | brain |
6 | chr9:141017600-141019200 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
7 | chr9:141017600-141019400 | Weak transcription | Fetal Brain Female | brain |
8 | chr9:141019000-141020800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
9 | chr9:141020600-141020800 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
10 | chr9:141022600-141023400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
11 | chr9:141022600-141023400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
12 | chr9:141023400-141023800 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
13 | chr9:141023400-141023800 | Active TSS | Breast Myoepithelial Primary Cells | Breast |
14 | chr9:141023400-141024000 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
15 | chr9:141023400-141024000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |