Variant report
Variant | esv3425785 |
---|---|
Chromosome Location | chr16:76398943-76402494 |
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 | rs200999749 | chr16:76398945-76398946 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs185791890 | chr16:76398946-76398947 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs560578426 | chr16:76398947-76398948 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs147331055 | chr16:76398961-76398962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs3974451 | chr16:76398989-76398990 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs201476378 | chr16:76398990-76398991 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs199518001 | chr16:76398992-76398993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs576060089 | chr16:76398997-76398998 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs144858303 | chr16:76399013-76399014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs561333443 | chr16:76399032-76399033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs574195622 | chr16:76399043-76399044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs540626803 | chr16:76399068-76399069 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs564760991 | chr16:76399092-76399093 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs533473010 | chr16:76399114-76399115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs8059413 | chr16:76399120-76399121 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs570179542 | chr16:76399147-76399148 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs529389127 | chr16:76399154-76399155 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs190157775 | chr16:76399178-76399179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs556765078 | chr16:76399196-76399197 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs12932600 | chr16:76399216-76399217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs545673072 | chr16:76399235-76399236 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs534971180 | chr16:76399270-76399271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs8043911 | chr16:76399287-76399288 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs149693799 | chr16:76399313-76399314 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs8062657 | chr16:76399399-76399400 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs8063803 | chr16:76399402-76399403 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs575868702 | chr16:76399407-76399408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs8062793 | chr16:76399430-76399431 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs181860874 | chr16:76399458-76399459 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs187347648 | chr16:76399505-76399506 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs72628213 | chr16:76399518-76399519 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs563948041 | chr16:76399521-76399522 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs200910405 | chr16:76399522-76399523 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs375631326 | chr16:76399543-76399544 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs533651708 | chr16:76399544-76399545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs192121680 | chr16:76399545-76399546 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs76364829 | chr16:76399564-76399565 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs546140072 | chr16:76399565-76399566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs529557739 | chr16:76399581-76399582 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs569480722 | chr16:76399584-76399585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs140993780 | chr16:76399591-76399592 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs143154449 | chr16:76399605-76399606 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs148246861 | chr16:76399620-76399621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs201194628 | chr16:76399643-76399644 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs377597283 | chr16:76399648-76399649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs371265803 | chr16:76399649-76399650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs75493875 | chr16:76399658-76399659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs386385107 | chr16:76399664-76399665 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs35586454 | chr16:76399667-76399668 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs17766856 | chr16:76399779-76399780 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Schizophrenia | 22958593 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Autism | 22495311 | CNVD |
Wilms tumour | 21544195 | CNVD |
Prostate cancer | 18632612 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16702952 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Prostate cancer | 19242612 | CNVD |
Cancer | 22429812 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Melanoma | 18172304 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 20837533 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Breast cancer | 17001317 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Breast cancer | 17603634 | CNVD |
Prostate cancer | 16573809 | CNVD |
Prostate cancer | 17245344 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Breast cancer | 21806811 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Melanoma | 22183965 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Poland''s syndrome | 22110015 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21183584 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Lung cancer | 18438408 | CNVD |
Prostate cancer | 19156837 | CNVD |
Acute myeloid leukemia | 17377590 | CNVD |
Breast cancer | 20409316 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 21509527 | CNVD |
Schizophrenia | 23813976 | CNVD |
Lung cancer | 24585490 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr16:76390800-76406400 | Weak transcription | Brain Angular Gyrus | brain |
2 | chr16:76394600-76409400 | Weak transcription | Brain Hippocampus Middle | brain |
3 | chr16:76395400-76421800 | Weak transcription | Brain Inferior Temporal Lobe | brain |
4 | chr16:76399200-76401600 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |