Variant report
Variant | nsv1020937 |
---|---|
Chromosome Location | chr5:57938969-57959918 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:44)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:44 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr5:57954859-57954925 | IMR90 | lung: | n/a | n/a |
2 | CEBPB | chr5:57954497-57954774 | HepG2 | liver: | n/a | chr5:57954631-57954642 chr5:57954594-57954605 |
3 | CTCF | chr5:57943249-57943303 | Spleen_OC | spleen: | n/a | n/a |
4 | CTCF | chr5:57939727-57939822 | Spleen_OC | spleen: | n/a | n/a |
5 | CUX1 | chr5:57959674-57959679 | GM12878 | blood: | n/a | n/a |
6 | E2F4 | chr5:57942637-57942837 | MCF10A-Er-Src | breast: | n/a | n/a |
7 | EP300 | chr5:57945519-57945833 | SK-N-SH_RA | brain: | n/a | n/a |
8 | EP300 | chr5:57945527-57945831 | SK-N-SH_RA | brain: | n/a | n/a |
9 | EP300 | chr5:57944567-57947309 | SK-N-SH | brain: | n/a | chr5:57946173-57946187 chr5:57946159-57946173 chr5:57945922-57945936 |
10 | FAM48A | chr5:57958691-57958860 | GM12878 | blood: | n/a | n/a |
11 | FOS | chr5:57944586-57945035 | HUVEC | blood vessel: | n/a | n/a |
12 | GATA2 | chr5:57944595-57945076 | HUVEC | blood vessel: | n/a | n/a |
13 | GATA2 | chr5:57945378-57945905 | SH-SY5Y | brain: | n/a | chr5:57945721-57945731 |
14 | GATA3 | chr5:57945488-57945885 | SH-SY5Y | brain: | n/a | chr5:57945721-57945731 |
15 | GATA3 | chr5:57944083-57944214 | SH-SY5Y | brain: | n/a | n/a |
16 | GATA3 | chr5:57946116-57946252 | SH-SY5Y | brain: | n/a | chr5:57946161-57946171 |
17 | JUN | chr5:57941789-57941916 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | JUND | chr5:57956553-57956888 | H1-hESC | embryonic stem cell: | n/a | chr5:57956719-57956730 chr5:57956709-57956718 chr5:57956724-57956731 chr5:57956722-57956731 chr5:57956721-57956733 |
19 | JUND | chr5:57956699-57956818 | HepG2 | liver: | n/a | chr5:57956719-57956730 chr5:57956709-57956718 chr5:57956724-57956731 chr5:57956722-57956731 chr5:57956721-57956733 |
20 | KAP1 | chr5:57944651-57945126 | HEK293 | kidney: | n/a | n/a |
21 | MAFK | chr5:57954403-57954510 | HepG2 | liver: | n/a | chr5:57954461-57954476 |
22 | MAFK | chr5:57939169-57939250 | HepG2 | liver: | n/a | n/a |
23 | MAX | chr5:57956659-57956891 | H1-hESC | embryonic stem cell: | n/a | n/a |
24 | MYC | chr5:57944792-57944986 | HUVEC | blood vessel: | n/a | n/a |
25 | MYC | chr5:57941836-57941873 | MCF10A-Er-Src | breast: | n/a | n/a |
26 | POLR2A | chr5:57944568-57945223 | HUVEC | blood vessel: | n/a | n/a |
27 | POLR2A | chr5:57944887-57945004 | HUVEC | blood vessel: | n/a | n/a |
28 | POLR2A | chr5:57947831-57948039 | H1-neurons | neurons: | n/a | n/a |
29 | POLR2A | chr5:57945481-57945831 | SK-N-SH | brain: | n/a | n/a |
30 | POLR2A | chr5:57954525-57954555 | MCF10A-Er-Src | breast: | n/a | n/a |
31 | POLR2A | chr5:57944727-57945079 | HUVEC | blood vessel: | n/a | n/a |
32 | RAD21 | chr5:57945489-57945822 | SK-N-SH_RA | brain: | n/a | n/a |
33 | RAD21 | chr5:57945519-57945827 | SK-N-SH_RA | brain: | n/a | n/a |
34 | REST | chr5:57941760-57941872 | Hela-S3 | cervix: | n/a | chr5:57941809-57941818 |
35 | SETDB1 | chr5:57954438-57954721 | U2OS | brain: | n/a | n/a |
36 | STAT3 | chr5:57949869-57950090 | MCF10A-Er-Src | breast: | n/a | n/a |
37 | STAT3 | chr5:57947024-57947038 | MCF10A-Er-Src | breast: | n/a | n/a |
38 | STAT3 | chr5:57955065-57955250 | MCF10A-Er-Src | breast: | n/a | n/a |
39 | STAT3 | chr5:57958668-57959139 | MCF10A-Er-Src | breast: | n/a | n/a |
40 | USF1 | chr5:57944670-57945010 | H1-hESC | embryonic stem cell: | n/a | n/a |
41 | USF1 | chr5:57944722-57944977 | SK-N-SH_RA | brain: | n/a | n/a |
42 | USF1 | chr5:57944703-57945043 | H1-hESC | embryonic stem cell: | n/a | n/a |
43 | USF2 | chr5:57944738-57944980 | Hela-S3 | cervix: | n/a | chr5:57944863-57944874 |
44 | YY1 | chr5:57945542-57945814 | SK-N-SH_RA | brain: | n/a | n/a |
No data |
(count:2 , 50 per page) page:
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
RAB3C | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs529420901 | chr5:57939003-57939004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs550791835 | chr5:57939030-57939031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs528923874 | chr5:57939060-57939061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs569319064 | chr5:57939083-57939084 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs533306043 | chr5:57939095-57939096 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs73759531 | chr5:57939188-57939189 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs192580983 | chr5:57939197-57939198 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs534199360 | chr5:57939204-57939205 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs555671470 | chr5:57939209-57939210 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs4997647 | chr5:57939227-57939228 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs146644577 | chr5:57939250-57939251 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs185132107 | chr5:57939304-57939305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs139868106 | chr5:57939386-57939387 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs77245699 | chr5:57939442-57939443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs549106770 | chr5:57939452-57939453 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs149828655 | chr5:57939459-57939460 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs565627139 | chr5:57939496-57939497 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs553843679 | chr5:57939522-57939523 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs145745413 | chr5:57939561-57939562 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs542238550 | chr5:57939590-57939591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs1876688 | chr5:57939599-57939600 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs529579158 | chr5:57939647-57939648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs551348921 | chr5:57939740-57939741 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs189925439 | chr5:57939747-57939748 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs544783561 | chr5:57939748-57939749 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs532214497 | chr5:57939767-57939768 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs1876689 | chr5:57939793-57939794 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs374654718 | chr5:57939804-57939805 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs551549371 | chr5:57939819-57939820 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs148955455 | chr5:57939820-57939821 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs566991424 | chr5:57939836-57939837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs292992 | chr5:57939837-57939838 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs549430829 | chr5:57939843-57939844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs292993 | chr5:57939858-57939859 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs147025070 | chr5:57939865-57939866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs147664872 | chr5:57939867-57939868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs571316454 | chr5:57939878-57939879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs182088198 | chr5:57939886-57939887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs546827081 | chr5:57939887-57939888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs371736844 | chr5:57939895-57939896 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs571588802 | chr5:57939927-57939928 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs184745821 | chr5:57939936-57939937 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs6898044 | chr5:57939946-57939947 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs374185096 | chr5:57940033-57940034 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs376033315 | chr5:57940034-57940035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs370546714 | chr5:57940040-57940041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs554185901 | chr5:57940082-57940083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs556677520 | chr5:57940118-57940119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs573991523 | chr5:57940119-57940120 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs117884787 | chr5:57940120-57940121 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | 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 |
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 |
Autism | 22495311 | CNVD |
Intellectual disability | 22102821 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21183584 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioma | 20126413 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Breast cancer | 22032731 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
Breast cancer | 17393978 | CNVD |
Cancer | 21359685 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Breast cancer | 21858162 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Leukemia | 17361228 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
5q-syndrome | 17576883 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 16740712 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Oral cancer | 21386901 | CNVD |
Bladder cancer | 21909424 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Lung cancer | 21911935 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 19602461 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
abnormal development | 18461090 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 21364760 | CNVD |
Cancer | 20164920 | CNVD |
Melanoma | 20877625 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:57933600-57944000 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
2 | chr5:57942600-57943000 | Bivalent Enhancer | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr5:57944000-57945800 | Enhancers | HUVEC | blood vessel |
4 | chr5:57944000-57947600 | Enhancers | Pancreatic Islets | Pancreatic Islet |
5 | chr5:57944200-57946800 | Weak transcription | Fetal Brain Male | brain |
6 | chr5:57944600-57945000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
7 | chr5:57944600-57945000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
8 | chr5:57944800-57945000 | Enhancers | Fetal Lung | lung |
9 | chr5:57945000-57945400 | Flanking Active TSS | Fetal Lung | lung |
10 | chr5:57945000-57945800 | Enhancers | Fetal Stomach | stomach |
11 | chr5:57945400-57945800 | Enhancers | Aorta | Aorta |
12 | chr5:57945400-57947200 | Enhancers | Fetal Lung | lung |
13 | chr5:57946800-57947200 | Active TSS | Fetal Brain Male | brain |
14 | chr5:57947200-57948600 | Weak transcription | Fetal Lung | lung |
15 | chr5:57948600-57948800 | Enhancers | Fetal Lung | lung |
16 | chr5:57954000-57954600 | Enhancers | Primary hematopoietic stem cells | blood |
17 | chr5:57954000-57954600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
18 | chr5:57954000-57954800 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
19 | chr5:57954200-57954800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
20 | chr5:57957200-57957800 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
21 | chr5:57957200-57957800 | Enhancers | Pancreatic Islets | Pancreatic Islet |
22 | chr5:57957400-57957800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
23 | chr5:57957400-57958200 | Enhancers | Fetal Stomach | stomach |
24 | chr5:57957800-57961000 | Weak transcription | Pancreatic Islets | Pancreatic Islet |