Variant report
Variant | esv1795711 |
---|---|
Chromosome Location | chr10:37439332-37486964 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:77)
- CpG islands (count:0)
- 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 | CTCF | chr10:37442159-37442261 | K562 | blood: | n/a | n/a |
2 | CTCF | chr10:37452696-37452762 | Kidney_OC | kidney: | n/a | n/a |
3 | CTCF | chr10:37486131-37486169 | GM20000 | blood: | n/a | n/a |
4 | CTCF | chr10:37447106-37447182 | Spleen_OC | spleen: | n/a | n/a |
5 | CTCF | chr10:37486296-37486408 | GM13977 | blood: | n/a | n/a |
6 | CTCF | chr10:37446718-37446806 | Lung_OC | lung: | n/a | n/a |
7 | CTCF | chr10:37477527-37477727 | Lung_OC | lung: | n/a | n/a |
8 | CTCF | chr10:37452481-37452521 | Medullo | brain: | n/a | n/a |
9 | CTCF | chr10:37469711-37469782 | Lung_OC | lung: | n/a | n/a |
10 | CTCF | chr10:37458752-37458787 | Lung_OC | lung: | n/a | n/a |
11 | CTCF | chr10:37481138-37481209 | Kidney_OC | kidney: | n/a | n/a |
12 | CTCF | chr10:37484346-37484411 | GM20000 | blood: | n/a | n/a |
13 | CTCF | chr10:37475018-37475056 | Spleen_OC | spleen: | n/a | n/a |
14 | CTCF | chr10:37442131-37442208 | GM20000 | blood: | n/a | n/a |
15 | E2F4 | chr10:37446270-37446422 | MCF10A-Er-Src | breast: | n/a | n/a |
16 | EP300 | chr10:37451298-37451858 | A549 | lung: | n/a | n/a |
17 | EP300 | chr10:37451171-37451918 | A549 | lung: | n/a | n/a |
18 | FOXA1 | chr10:37458759-37459221 | HepG2 | liver: | n/a | n/a |
19 | FOXA1 | chr10:37470551-37471013 | HepG2 | liver: | n/a | n/a |
20 | FOXA1 | chr10:37482293-37482719 | HepG2 | liver: | n/a | n/a |
21 | FOXA2 | chr10:37462328-37462875 | A549 | lung: | n/a | chr10:37462491-37462503 |
22 | FOXA2 | chr10:37474195-37474667 | A549 | lung: | n/a | chr10:37474292-37474304 |
23 | FOXA2 | chr10:37471589-37472076 | A549 | lung: | n/a | n/a |
24 | FOXA2 | chr10:37459763-37460276 | A549 | lung: | n/a | n/a |
25 | FOXA2 | chr10:37459827-37460275 | A549 | lung: | n/a | n/a |
26 | FOXA2 | chr10:37471564-37472016 | A549 | lung: | n/a | n/a |
27 | FOXA2 | chr10:37451397-37451744 | A549 | lung: | n/a | chr10:37451428-37451440 |
28 | FOXA2 | chr10:37485922-37486464 | A549 | lung: | n/a | chr10:37486060-37486072 |
29 | MAFF | chr10:37447788-37447979 | HepG2 | liver: | n/a | n/a |
30 | MAFK | chr10:37447782-37448058 | HepG2 | liver: | n/a | chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942 |
31 | MAFK | chr10:37447778-37447999 | HepG2 | liver: | n/a | chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942 |
32 | MAFK | chr10:37447832-37448011 | IMR90 | lung: | n/a | chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942 |
33 | MAFK | chr10:37439661-37439715 | HepG2 | liver: | n/a | n/a |
34 | NR3C1 | chr10:37459715-37460235 | A549 | lung: | n/a | n/a |
35 | NR3C1 | chr10:37483309-37483816 | A549 | lung: | n/a | n/a |
36 | NR3C1 | chr10:37471535-37472094 | A549 | lung: | n/a | chr10:37471855-37471872 |
37 | NR3C1 | chr10:37459709-37460324 | A549 | lung: | n/a | n/a |
38 | NR3C1 | chr10:37448652-37449197 | A549 | lung: | n/a | chr10:37448958-37448975 |
39 | NR3C1 | chr10:37459685-37460255 | A549 | lung: | n/a | n/a |
40 | NR3C1 | chr10:37471501-37471958 | A549 | lung: | n/a | chr10:37471855-37471872 |
41 | NR3C1 | chr10:37448654-37449122 | A549 | lung: | n/a | chr10:37448958-37448975 |
42 | NR3C1 | chr10:37459743-37460302 | A549 | lung: | n/a | n/a |
43 | NR3C1 | chr10:37483307-37483782 | A549 | lung: | n/a | n/a |
44 | NR3C1 | chr10:37483252-37483794 | A549 | lung: | n/a | n/a |
45 | NR3C1 | chr10:37471477-37472045 | A549 | lung: | n/a | chr10:37471855-37471872 |
46 | NR3C1 | chr10:37483285-37483776 | A549 | lung: | n/a | n/a |
47 | NR3C1 | chr10:37483385-37483688 | A549 | lung: | n/a | n/a |
48 | NR3C1 | chr10:37471507-37472170 | A549 | lung: | n/a | chr10:37471855-37471872 |
49 | NR3C1 | chr10:37448651-37449170 | A549 | lung: | n/a | chr10:37448958-37448975 |
50 | NR3C1 | chr10:37460029-37460168 | A549 | lung: | n/a | n/a |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ANKRD30A | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs111234514 | chr10:37439365-37439366 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
2 | rs548218247 | chr10:37439420-37439421 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs561320476 | chr10:37439425-37439426 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs193104588 | chr10:37439433-37439434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs550246343 | chr10:37439439-37439440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs533757176 | chr10:37439442-37439443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs570168031 | chr10:37439476-37439477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs557955067 | chr10:37439477-37439478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs116106494 | chr10:37439515-37439516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs566303670 | chr10:37439519-37439520 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs535310956 | chr10:37439520-37439521 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs555001912 | chr10:37439533-37439534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs574368981 | chr10:37439534-37439535 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs112131922 | chr10:37439547-37439548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs556597294 | chr10:37439548-37439549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs576547072 | chr10:37439551-37439552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs370499561 | chr10:37439649-37439650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs547165325 | chr10:37439660-37439661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs572991719 | chr10:37439672-37439673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs542098754 | chr10:37439685-37439686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs561882086 | chr10:37439688-37439689 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs113430087 | chr10:37439711-37439712 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs530058587 | chr10:37439716-37439717 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs550209975 | chr10:37439799-37439800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs563743663 | chr10:37439890-37439891 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs532628729 | chr10:37439922-37439923 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs368051516 | chr10:37439947-37439948 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs1623271 | chr10:37439954-37439955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs17605765 | chr10:37439957-37439958 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs201580260 | chr10:37439982-37439983 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs199724168 | chr10:37439985-37439986 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs200412184 | chr10:37439986-37439987 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs537017164 | chr10:37439987-37439988 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs28414526 | chr10:37439992-37439993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs28621816 | chr10:37439999-37440000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs28539926 | chr10:37440008-37440009 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs111728438 | chr10:37440032-37440033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs559308356 | chr10:37440052-37440053 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs541665378 | chr10:37440117-37440118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs184970279 | chr10:37440146-37440147 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs189675830 | chr10:37440172-37440173 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs575468879 | chr10:37440184-37440185 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs372711919 | chr10:37440242-37440243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs147695162 | chr10:37440266-37440267 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs115761528 | chr10:37440267-37440268 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs532588641 | chr10:37440286-37440287 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs546316985 | chr10:37440326-37440327 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs17605771 | chr10:37440331-37440332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs117247691 | chr10:37440342-37440343 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs17605778 | chr10:37440368-37440369 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17603634 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Gastric cancer | 17908304 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Melanoma | 18172304 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
Lung cancer | 18438408 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Oral cancer | 21386901 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20724749 | CNVD |
Autism | 22495311 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Behavioral abnormalities | 21522184 | CNVD |
Dysmorphic features | 21522184 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Bethlem myopathy | 20302629 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Prostate cancer | 18632612 | CNVD |
Hepatocellular carcinoma | 16785998 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Breast cancer | 21364760 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Cancer | 20164919 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr10:37439000-37439400 | Active TSS | A549 | lung |
2 | chr10:37439400-37441200 | Weak transcription | A549 | lung |
3 | chr10:37441200-37441400 | Enhancers | A549 | lung |
4 | chr10:37446400-37447200 | Weak transcription | A549 | lung |
5 | chr10:37447800-37448400 | ZNF genes & repeats | A549 | lung |
6 | chr10:37448400-37454800 | Weak transcription | A549 | lung |
7 | chr10:37454800-37455200 | Enhancers | A549 | lung |
8 | chr10:37479600-37490800 | Weak transcription | A549 | lung |