Variant report
Variant | esv34076 |
---|---|
Chromosome Location | chr2:213298576-213306627 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:9)
- CpG islands (count:0)
- 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:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr2:213302550-213302702 | HepG2 | liver: | n/a | chr2:213302635-213302646 |
2 | GATA3 | chr2:213302596-213302879 | T-47D | breast: | n/a | n/a |
3 | JUN | chr2:213300931-213301177 | HepG2 | liver: | n/a | chr2:213301036-213301049 chr2:213301037-213301046 chr2:213300977-213300989 |
4 | KAP1 | chr2:213306544-213306780 | HEK293 | kidney: | n/a | n/a |
5 | MAX | chr2:213303713-213303741 | NB4 | blood: | n/a | n/a |
6 | MYC | chr2:213303915-213303917 | MCF10A-Er-Src | breast: | n/a | n/a |
7 | POLR2A | chr2:213303723-213303887 | MCF10A-Er-Src | breast: | n/a | n/a |
8 | POLR2A | chr2:213302977-213303125 | MCF10A-Er-Src | breast: | n/a | n/a |
9 | STAT3 | chr2:213300710-213300764 | MCF10A-Er-Src | breast: | n/a | n/a |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ERBB4 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs58698074 | chr2:213298646-213298647 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs547123559 | chr2:213298710-213298711 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs181508060 | chr2:213298790-213298791 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs567077339 | chr2:213298829-213298830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs186810420 | chr2:213298835-213298836 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs561909076 | chr2:213298878-213298879 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs529110889 | chr2:213299009-213299010 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs550829846 | chr2:213299030-213299031 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs148671785 | chr2:213299064-213299065 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs539792896 | chr2:213299098-213299099 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs533332202 | chr2:213299138-213299139 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs551810401 | chr2:213299147-213299148 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs566925985 | chr2:213299203-213299204 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs539275028 | chr2:213299234-213299235 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs71424496 | chr2:213299254-213299255 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs192010076 | chr2:213299282-213299283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs555623600 | chr2:213299301-213299302 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs375290205 | chr2:213299333-213299334 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs567836214 | chr2:213299340-213299341 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs538074816 | chr2:213299349-213299350 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs183778849 | chr2:213299412-213299413 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs577924470 | chr2:213299445-213299446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs552899324 | chr2:213299507-213299508 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs16848553 | chr2:213299544-213299545 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs34795476 | chr2:213299654-213299655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs557326319 | chr2:213299670-213299671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs572545216 | chr2:213299676-213299677 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs189233557 | chr2:213299706-213299707 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs76082431 | chr2:213299707-213299708 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs13390934 | chr2:213299712-213299713 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs544091489 | chr2:213299750-213299751 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs553285574 | chr2:213299755-213299756 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs562732547 | chr2:213299769-213299770 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs573653895 | chr2:213299779-213299780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs533270666 | chr2:213299786-213299787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs535970041 | chr2:213299798-213299799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs553092300 | chr2:213299889-213299890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs142151930 | chr2:213299900-213299901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs386654826 | chr2:213299937-213299938 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs566864979 | chr2:213299964-213299965 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs189668529 | chr2:213299966-213299967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs549437930 | chr2:213300070-213300071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs544851445 | chr2:213300086-213300087 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs566894539 | chr2:213300087-213300088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs538392986 | chr2:213300099-213300100 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs535499727 | chr2:213300114-213300115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs182220843 | chr2:213300167-213300168 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs186913523 | chr2:213300209-213300210 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs7605269 | chr2:213300219-213300220 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs185029273 | chr2:213300238-213300239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ependymoma | 16718352 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 17603634 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Breast cancer | 16272173 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Autism | 16446308 | CNVD |
Autism | 19401682 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Lung cancer | 18438408 | CNVD |
Prostate cancer | 18632612 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Cervical cancer | 21062161 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Autism | 20808228 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Ovarian cancer | 19193619 | CNVD |
Non-small cell lung cancer | 18676828 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Chordoma | 18071362 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 18923514 | CNVD |
Schizophrenia | 22241247 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Developmental delay | 21147756 | CNVD |
Schizophrenia | 18990708 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:213294600-213298600 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
2 | chr2:213296800-213298800 | Weak transcription | Fetal Heart | heart |
3 | chr2:213298600-213298800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
4 | chr2:213298800-213299400 | Enhancers | Fetal Heart | heart |
5 | chr2:213299400-213302200 | Weak transcription | Fetal Heart | heart |
6 | chr2:213301600-213301800 | Enhancers | Aorta | Aorta |
7 | chr2:213302000-213306600 | Weak transcription | Aorta | Aorta |
8 | chr2:213302200-213302800 | Enhancers | Fetal Heart | heart |
9 | chr2:213305400-213305600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |