Variant report
Variant | esv3368049 |
---|---|
Chromosome Location | chr12:73854747-73864110 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs191114729 | chr12:73855401-73855402 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs182863988 | chr12:73855417-73855418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs188410520 | chr12:73855441-73855442 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs193201571 | chr12:73855531-73855532 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs1915287 | chr12:73855555-73855556 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs11179660 | chr12:73855566-73855567 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs182897881 | chr12:73855575-73855576 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs76178421 | chr12:73855576-73855577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs573187260 | chr12:73855579-73855580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs1915286 | chr12:73855580-73855581 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs188406680 | chr12:73855581-73855582 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs74678488 | chr12:73855597-73855598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs544793897 | chr12:73855611-73855612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs561447398 | chr12:73855664-73855665 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs575125123 | chr12:73855675-73855676 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs540922781 | chr12:73855680-73855681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs560768133 | chr12:73855684-73855685 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs1915285 | chr12:73855726-73855727 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs139369493 | chr12:73855734-73855735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs10083125 | chr12:73855764-73855765 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs139245795 | chr12:73855784-73855785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs74396637 | chr12:73855801-73855802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs550296732 | chr12:73855843-73855844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs567116340 | chr12:73855847-73855848 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs145477749 | chr12:73855893-73855894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs370623117 | chr12:73855904-73855905 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs147264425 | chr12:73855905-73855906 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs183703630 | chr12:73855915-73855916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs377058396 | chr12:73855930-73855931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs538991645 | chr12:73856017-73856018 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs111843704 | chr12:73856037-73856038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs140521681 | chr12:73856054-73856055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs575624267 | chr12:73856130-73856131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs538330476 | chr12:73856133-73856134 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs375301581 | chr12:73856161-73856162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs34912538 | chr12:73856216-73856217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs575036523 | chr12:73856270-73856271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs540836645 | chr12:73856297-73856298 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs554411360 | chr12:73856334-73856335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs199908361 | chr12:73856339-73856340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs372340433 | chr12:73856345-73856346 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs117839719 | chr12:73856346-73856347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs371452093 | chr12:73856349-73856350 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs377434949 | chr12:73856350-73856351 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs140928204 | chr12:73856362-73856363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs141259027 | chr12:73856380-73856381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs189151801 | chr12:73856438-73856439 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs192547985 | chr12:73856485-73856486 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs11615139 | chr12:73856494-73856495 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs112685743 | chr12:73856524-73856525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Autism | 22495311 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 21949216 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 21637783 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 17899364 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Cancer | 16751803 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Melanoma | 18172304 | CNVD |
Glioblastoma multiforme | 21390271 | CNVD |
Cancer | 20164919 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 21785460 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
abnormal development | 18461090 | CNVD |
Prostate cancer | 18632612 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Breast cancer | 16620391 | CNVD |
Disease | 21505450 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 17133270 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 22032731 | 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 |
Hodgkin''s lymphoma | 18641027 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Breast cancer | 21509527 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:73855400-73859000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
2 | chr12:73858800-73859400 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
3 | chr12:73858800-73859400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
4 | chr12:73859000-73859200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
5 | chr12:73859000-73859400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
6 | chr12:73859000-73859400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
7 | chr12:73859000-73859400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
8 | chr12:73859000-73859400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
9 | chr12:73859000-73859400 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
10 | chr12:73859000-73859400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
11 | chr12:73859000-73859400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
12 | chr12:73859000-73859600 | Enhancers | H1 Cell Line | embryonic stem cell |