Variant report
Variant | nsv597994 |
---|---|
Chromosome Location | chr5:45540850-45554440 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:9)
- CpG islands (count:61)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:9 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | BRCA1 | chr5:45551191-45551382 | H1-hESC | embryonic stem cell: | n/a | n/a |
2 | GATA3 | chr5:45550913-45551157 | SH-SY5Y | brain: | n/a | n/a |
3 | KAP1 | chr5:45544083-45544278 | K562 | blood: | n/a | n/a |
4 | POLR2A | chr5:45542672-45542817 | MCF10A-Er-Src | breast: | n/a | n/a |
5 | POLR2A | chr5:45540825-45541025 | MCF10A-Er-Src | breast: | n/a | n/a |
6 | POLR2A | chr5:45541571-45541613 | MCF10A-Er-Src | breast: | n/a | n/a |
7 | SPI1 | chr5:45548743-45548856 | GM12878 | blood: | n/a | n/a |
8 | SPI1 | chr5:45548738-45548861 | K562 | blood: | n/a | n/a |
9 | STAT3 | chr5:45547509-45547517 | MCF10A-Er-Src | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:45553518-45553568 | GM19239 | blood: | n/a |
2 | chr5:45553518-45553568 | NHBE | bronchial: | n/a |
3 | chr5:45553518-45553568 | HMEC | breast: | n/a |
4 | chr5:45553518-45553568 | Caco-2 | colon: | n/a |
5 | chr5:45553518-45553568 | NHDF-neo | bronchial: | n/a |
6 | chr5:45553518-45553568 | PrEC | prostate: | n/a |
7 | chr5:45553518-45553568 | GM12891 | blood: | n/a |
8 | chr5:45553518-45553568 | AG04450 | lung: | fetal |
9 | chr5:45553518-45553568 | T-47D | breast: | n/a |
10 | chr5:45553518-45553568 | HepG2 | liver: | n/a |
11 | chr5:45553518-45553568 | SAEC | small airway: | n/a |
12 | chr5:45553518-45553568 | HCT-116 | colon: | n/a |
13 | chr5:45553518-45553568 | NT2-D1 | testis: | n/a |
14 | chr5:45553518-45553568 | RPTEC | kidney: | n/a |
15 | chr5:45553518-45553568 | HL-60 | blood: | n/a |
16 | chr5:45553518-45553568 | GM12878 | blood: | n/a |
17 | chr5:45553518-45553568 | K562 | blood: | n/a |
18 | chr5:45553518-45553568 | MCF10A-Er-Src | breast: | n/a |
19 | chr5:45553518-45553568 | AG04449 | skin: | fetal |
20 | chr5:45553518-45553568 | IMR90 | lung: | fetal |
21 | chr5:45553518-45553568 | U87 | brain: | n/a |
22 | chr5:45553518-45553568 | Hepatocyte | liver: | n/a |
23 | chr5:45553518-45553568 | Hela-S3 | cervix: | n/a |
24 | chr5:45553518-45553568 | AG09309 | skin: | n/a |
25 | chr5:45553518-45553568 | HEK293 | kidney: | embryo |
26 | chr5:45553518-45553568 | HRPEpiC | eye: | n/a |
27 | chr5:45553518-45553568 | HRE | kidney: | n/a |
28 | chr5:45553518-45553568 | LNCaP | prostate: | n/a |
29 | chr5:45553518-45553568 | SK-N-SH_RA | brain: | n/a |
30 | chr5:45553518-45553568 | HAEpiC | amniotic membrane: | n/a |
31 | chr5:45553518-45553568 | BE2_C | brain: | n/a |
32 | chr5:45553518-45553568 | AoSMC | blood vessel: | n/a |
33 | chr5:45553518-45553568 | HNPCEpiC | eye: | n/a |
34 | chr5:45553518-45553568 | BJ | skin: | n/a |
35 | chr5:45553518-45553568 | HCM | heart: | n/a |
36 | chr5:45553518-45553568 | AG09319 | gingival: | n/a |
37 | chr5:45553518-45553568 | ovcar-3 | ovarian: | n/a |
38 | chr5:45553518-45553568 | PANC-1 | pancreas: | n/a |
39 | chr5:45553518-45553568 | HIPEpiC | eye: | n/a |
40 | chr5:45553518-45553568 | HPAEpiC | pulmonary alveolar: | n/a |
41 | chr5:45553518-45553568 | SK-N-MC | brain: | n/a |
42 | chr5:45553518-45553568 | HUVEC | blood vessel: | n/a |
43 | chr5:45553518-45553568 | HCF | heart: | n/a |
44 | chr5:45553518-45553568 | ECC-1 | luminal epithelium: | n/a |
45 | chr5:45553518-45553568 | HEEpiC | esophagus: | n/a |
46 | chr5:45553518-45553568 | MCF-7 | breast: | n/a |
47 | chr5:45553518-45553568 | CMK | blood: | n/a |
48 | chr5:45553518-45553568 | GM06990 | blood: | n/a |
49 | chr5:45553518-45553568 | GM12892 | blood: | n/a |
50 | chr5:45553518-45553568 | ProgFib | skin: | n/a |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr15:66571588..66572090-chr5:45541388..45542303,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000250422 | TF binding region |
ENSG00000250422 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs191085432 | chr5:45541203-45541204 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs562757136 | chr5:45541247-45541248 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs183795007 | chr5:45541254-45541255 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs148178239 | chr5:45541265-45541266 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs575565269 | chr5:45541279-45541280 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs376596516 | chr5:45541281-45541282 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs568146337 | chr5:45541284-45541285 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs551262439 | chr5:45541291-45541292 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs533765702 | chr5:45541300-45541301 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs547054679 | chr5:45541308-45541309 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs367945197 | chr5:45541344-45541345 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs141937742 | chr5:45541419-45541420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs150250638 | chr5:45541440-45541441 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs188335886 | chr5:45541452-45541453 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs72762067 | chr5:45541457-45541458 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs531800812 | chr5:45541504-45541505 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs192680542 | chr5:45541599-45541600 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs550024056 | chr5:45541604-45541605 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs137964392 | chr5:45541611-45541612 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs568576445 | chr5:45541625-45541626 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs143534068 | chr5:45541635-45541636 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs184925397 | chr5:45541656-45541657 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs147127767 | chr5:45541700-45541701 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs533362786 | chr5:45541707-45541708 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs564533463 | chr5:45541755-45541756 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs78576575 | chr5:45541779-45541780 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs547860567 | chr5:45541820-45541821 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs578149104 | chr5:45541830-45541831 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs369127728 | chr5:45541833-45541834 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs187720391 | chr5:45541840-45541841 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs529322490 | chr5:45541856-45541857 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs548166526 | chr5:45542055-45542056 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs562031844 | chr5:45542111-45542112 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs115805153 | chr5:45542166-45542167 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs78530664 | chr5:45542189-45542190 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs191491655 | chr5:45542225-45542226 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs140290257 | chr5:45542246-45542247 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs142718741 | chr5:45542258-45542259 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs549879565 | chr5:45542326-45542327 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs569525880 | chr5:45542393-45542394 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs530918256 | chr5:45542511-45542512 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs572598277 | chr5:45542522-45542523 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs184205856 | chr5:45542556-45542557 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs374566191 | chr5:45542600-45542601 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs189961337 | chr5:45542602-45542603 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs572788950 | chr5:45542739-45542740 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs374658301 | chr5:45542766-45542767 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs377435266 | chr5:45542800-45542801 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs570177334 | chr5:45542819-45542820 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs78918554 | chr5:45542837-45542838 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 16783165 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Liposarcoma | 21253554 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Cervical cancer | 21062161 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Oral cancer | 21386901 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Cervical cancer | 18559093 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Gastric cancer | 22152101 | CNVD |
Oesophago-gastric ulcer | 22152101 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Bladder cancer | 21909424 | CNVD |
DNA damage stimulus | 22844521 | CNVD |
DNA repair | 22844521 | CNVD |
Breast cancer | 21785460 | CNVD |
Spinal muscular atrophy | 22422766 | CNVD |
Spinal muscular atrophy | 22558076 | CNVD |
Spinal muscular atrophy | 21320981 | CNVD |
Spinal muscular atrophy | 21762474 | CNVD |
Cancer | 16751803 | CNVD |
Breast cancer | 16608533 | CNVD |
Autism | 22495311 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cervical squamous cell carcinoma | 21590768 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21183584 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 17603634 | CNVD |
Melanoma | 18172304 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Glioma | 20126413 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Breast cancer | 22032731 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Breast cancer | 17133270 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
Breast cancer | 17393978 | CNVD |
Pleomorphic liposarcoma | 18784837 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Intellectual disability | 21811512 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intracranial aneurysm | 16715129 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Cancer | 21359685 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 20164920 | CNVD |
small cell lung cancer | 20016488 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:45541200-45543400 | Enhancers | Fetal Heart | heart |
2 | chr5:45551000-45551200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
3 | chr5:45551600-45553000 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
4 | chr5:45552400-45552600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
5 | chr5:45552800-45553000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
6 | chr5:45553000-45555200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr5:45553000-45555800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
8 | chr5:45553200-45553400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
9 | chr5:45553200-45553400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
10 | chr5:45553200-45554400 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
11 | chr5:45553400-45554400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
12 | chr5:45553400-45554400 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
13 | chr5:45554400-45554800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
14 | chr5:45554400-45555000 | Enhancers | H1 Cell Line | embryonic stem cell |
15 | chr5:45554400-45555400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
16 | chr5:45554400-45555600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
17 | chr5:45554400-45555800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |