Variant report
Variant | esv1818504 |
---|---|
Chromosome Location | chr10:51908274-51912706 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:9)
- CpG islands (count:122)
- Chromatin interactive region (count:0)
- 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 | CTCF | chr10:51912630-51912712 | GM19240 | blood: | n/a | n/a |
2 | CTCF | chr10:51912640-51912790 | SK-N-SH_RA | brain: | n/a | n/a |
3 | CTCF | chr10:51912578-51912723 | K562 | blood: | n/a | n/a |
4 | CTCF | chr10:51912475-51912606 | Kidney_OC | kidney: | n/a | n/a |
5 | CTCF | chr10:51912418-51912442 | Lung_OC | lung: | n/a | n/a |
6 | CTCF | chr10:51909455-51909496 | Kidney_OC | kidney: | n/a | n/a |
7 | CTCF | chr10:51912652-51912757 | GM13976 | blood: | n/a | n/a |
8 | CTCF | chr10:51911548-51911674 | GM20000 | blood: | n/a | n/a |
9 | USF1 | chr10:51912411-51912645 | HepG2 | liver: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr10:51912631-51912681 | A549 | lung: | n/a |
2 | chr10:51911889-51911939 | GM12878 | blood: | n/a |
3 | chr10:51912631-51912681 | PFSK-1 | brain: | n/a |
4 | chr10:51911889-51911939 | K562 | blood: | n/a |
5 | chr10:51912631-51912681 | SK-N-SH | brain: | n/a |
6 | chr10:51911889-51911939 | AG04449 | skin: | fetal |
7 | chr10:51912631-51912681 | GM06990 | blood: | n/a |
8 | chr10:51912631-51912681 | BE2_C | brain: | n/a |
9 | chr10:51912631-51912681 | AG09319 | gingival: | n/a |
10 | chr10:51911889-51911939 | HRCEpiC | kidney: | n/a |
11 | chr10:51912631-51912681 | IMR90 | lung: | fetal |
12 | chr10:51912631-51912681 | ovcar-3 | ovarian: | n/a |
13 | chr10:51912631-51912681 | PrEC | prostate: | n/a |
14 | chr10:51912631-51912681 | HepG2 | liver: | n/a |
15 | chr10:51912631-51912681 | SK-N-MC | brain: | n/a |
16 | chr10:51912631-51912681 | BJ | skin: | n/a |
17 | chr10:51912631-51912681 | AoSMC | blood vessel: | n/a |
18 | chr10:51912631-51912681 | SKMC | muscle: | n/a |
19 | chr10:51912631-51912681 | AG04449 | skin: | fetal |
20 | chr10:51912631-51912681 | NT2-D1 | testis: | n/a |
21 | chr10:51911889-51911939 | CMK | blood: | n/a |
22 | chr10:51911889-51911939 | HMEC | breast: | n/a |
23 | chr10:51911889-51911939 | HIPEpiC | eye: | n/a |
24 | chr10:51911889-51911939 | PFSK-1 | brain: | n/a |
25 | chr10:51911889-51911939 | HUVEC | blood vessel: | n/a |
26 | chr10:51912631-51912681 | MCF10A-Er-Src | breast: | n/a |
27 | chr10:51912631-51912681 | NB4 | blood: | n/a |
28 | chr10:51911889-51911939 | HNPCEpiC | eye: | n/a |
29 | chr10:51912631-51912681 | HL-60 | blood: | n/a |
30 | chr10:51912631-51912681 | K562 | blood: | n/a |
31 | chr10:51911889-51911939 | IMR90 | lung: | fetal |
32 | chr10:51911889-51911939 | HepG2 | liver: | n/a |
33 | chr10:51912631-51912681 | MCF-7 | breast: | n/a |
34 | chr10:51912631-51912681 | U87 | brain: | n/a |
35 | chr10:51911889-51911939 | HEK293 | kidney: | embryo |
36 | chr10:51912631-51912681 | CMK | blood: | n/a |
37 | chr10:51912631-51912681 | AG09309 | skin: | n/a |
38 | chr10:51911889-51911939 | PrEC | prostate: | n/a |
39 | chr10:51911889-51911939 | NHBE | bronchial: | n/a |
40 | chr10:51911889-51911939 | NB4 | blood: | n/a |
41 | chr10:51912631-51912681 | T-47D | breast: | n/a |
42 | chr10:51912631-51912681 | Jurkat | blood: | n/a |
43 | chr10:51912631-51912681 | SK-N-SH_RA | brain: | n/a |
44 | chr10:51912631-51912681 | AG10803 | skin: | n/a |
45 | chr10:51912631-51912681 | HEEpiC | esophagus: | n/a |
46 | chr10:51911889-51911939 | HCF | heart: | n/a |
47 | chr10:51912631-51912681 | NHDF-neo | bronchial: | n/a |
48 | chr10:51911889-51911939 | SAEC | small airway: | n/a |
49 | chr10:51911889-51911939 | SK-N-SH | brain: | n/a |
50 | chr10:51912631-51912681 | NHBE | bronchial: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
SLC9A3P1 | TF binding region |
SLC9A3P1 | CpG island |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs373734862 | chr10:51912610-51912611 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
2 | rs111416498 | chr10:51912616-51912617 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
3 | rs2805271 | chr10:51912623-51912624 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
4 | rs377528559 | chr10:51912644-51912645 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
5 | rs2813269 | chr10:51912648-51912649 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Pancreatic endocrine tumor | 17639061 | CNVD |
Gastric cancer | 17908304 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Melanoma | 18172304 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 20724749 | CNVD |
Autism | 22495311 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Prostate cancer | 18632612 | CNVD |
Autism | 18414403 | CNVD |
Cockayne syndrome | 18421352 | CNVD |
Glioblastoma | 16823260 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Cancer | 21183584 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Glioma | 21971842 | CNVD |
Cancer | 21637783 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Obesity | 21956041 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Developmental delay | 21948486 | CNVD |
Dysmorphic features | 21948486 | CNVD |
Epilepsy | 21948486 | CNVD |
Breast cancer | 21785460 | CNVD |
Intellectual disability | 21948486 | CNVD |
Intellectual disability | 22045946 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
skeletal anomalies | 21948486 | CNVD |
Autism | 21948486 | CNVD |
speech delay | 21948486 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 21990379 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Autism | 20841430 | CNVD |
Cancer | 20164919 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr10:51912600-51913000 | Active TSS | Brain Germinal Matrix | brain |