Variant report
Variant | nsv436380 |
---|---|
Chromosome Location | chr3:163909097-163912649 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs549745 | chr3:163909126-163909127 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs139523341 | chr3:163909144-163909145 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs544305415 | chr3:163909204-163909205 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs149713651 | chr3:163909231-163909232 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs74585611 | chr3:163909270-163909271 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs372779182 | chr3:163909278-163909279 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs145583348 | chr3:163909334-163909335 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs188599830 | chr3:163909365-163909366 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs139760056 | chr3:163909442-163909443 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs567483071 | chr3:163909460-163909461 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs145322314 | chr3:163909465-163909466 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs531392594 | chr3:163909495-163909496 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs16847815 | chr3:163909515-163909516 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs147642709 | chr3:163909546-163909547 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs788894 | chr3:163909559-163909560 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs788893 | chr3:163909582-163909583 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs549549827 | chr3:163909630-163909631 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs141504167 | chr3:163909654-163909655 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs140672213 | chr3:163909686-163909687 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs376512832 | chr3:163909738-163909739 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs192738506 | chr3:163909754-163909755 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs537942462 | chr3:163909772-163909773 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs76132218 | chr3:163909815-163909816 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs116049316 | chr3:163909830-163909831 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs540855883 | chr3:163909857-163909858 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs560537803 | chr3:163909924-163909925 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs114540970 | chr3:163909937-163909938 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs788892 | chr3:163909947-163909948 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
29 | rs562457669 | chr3:163909948-163909949 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs147041132 | chr3:163909953-163909954 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs151056355 | chr3:163909964-163909965 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs565023817 | chr3:163909965-163909966 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs141004371 | chr3:163909991-163909992 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs547539884 | chr3:163910008-163910009 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs567350043 | chr3:163910022-163910023 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs150240466 | chr3:163910060-163910061 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs640736 | chr3:163910070-163910071 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs138912216 | chr3:163910075-163910076 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs145702262 | chr3:163910079-163910080 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs114903741 | chr3:163910083-163910084 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs386667821 | chr3:163910089-163910090 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs56375007 | chr3:163910091-163910092 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs1321543 | chr3:163910095-163910096 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs142242486 | chr3:163910097-163910098 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs541256221 | chr3:163910107-163910108 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs73154430 | chr3:163910119-163910120 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs533689559 | chr3:163910180-163910181 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs138484761 | chr3:163910265-163910266 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs576499602 | chr3:163910272-163910273 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs142315643 | chr3:163910282-163910283 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Melanoma | 18172304 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 22032731 | CNVD |
Breast cancer | 16461572 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Melanoma | 21693616 | CNVD |
Lung cancer | 21426551 | CNVD |
Cancer | 21637783 | CNVD |
Cervical cancer | 21063398 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oral cancer | 21386901 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 22065749 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 16608533 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 16547154 | CNVD |
Breast cancer | 21364760 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Prostate cancer | 16573809 | CNVD |
Breast cancer | 21785460 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Mantle cell lymphoma | 19029149 | CNVD |
Malformation | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Breast cancer | 17133270 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Attention deficit hyperactivity disorder | 21324949 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
epilepsy | 18472482 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Parkinson disease | 21907011 | CNVD |
Bladder cancer | 21909424 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Cancer | 20164919 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:163904200-163912800 | Strong transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr3:163911000-163911600 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
3 | chr3:163912400-163912800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |