Variant report
Variant | esv3313007 |
---|---|
Chromosome Location | chr16:76406811-76408550 |
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 | rs376337112 | chr16:76406899-76406900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs74026752 | chr16:76406907-76406908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs527611670 | chr16:76406908-76406909 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs547175490 | chr16:76406935-76406936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs181184022 | chr16:76406948-76406949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs17699285 | chr16:76406953-76406954 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
7 | rs555795258 | chr16:76406954-76406955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs17766910 | chr16:76406978-76406979 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs535074325 | chr16:76406990-76406991 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs555366926 | chr16:76406993-76406994 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs73625367 | chr16:76406998-76406999 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs541784593 | chr16:76407003-76407004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs558378453 | chr16:76407049-76407050 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs34769518 | chr16:76407052-76407053 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs200094126 | chr16:76407075-76407076 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs544038375 | chr16:76407081-76407082 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs113047949 | chr16:76407098-76407099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs563737683 | chr16:76407104-76407105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs529411546 | chr16:76407119-76407120 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs532547890 | chr16:76407125-76407126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs546320153 | chr16:76407137-76407138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs559732807 | chr16:76407139-76407140 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs34315312 | chr16:76407141-76407142 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs35336828 | chr16:76407144-76407145 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs34160820 | chr16:76407160-76407161 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs186694565 | chr16:76407164-76407165 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs374552237 | chr16:76407168-76407169 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs138936341 | chr16:76407174-76407175 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs142173020 | chr16:76407184-76407185 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs549583553 | chr16:76407189-76407190 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs569625878 | chr16:76407194-76407195 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs117081530 | chr16:76407199-76407200 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs534742647 | chr16:76407207-76407208 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs114001335 | chr16:76407208-76407209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs28507210 | chr16:76407218-76407219 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs78116373 | chr16:76407307-76407308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs190577272 | chr16:76407322-76407323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs578253791 | chr16:76407328-76407329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs80025336 | chr16:76407333-76407334 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs557501610 | chr16:76407360-76407361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs144655707 | chr16:76407366-76407367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs543067034 | chr16:76407369-76407370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs78529051 | chr16:76407373-76407374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs199874429 | chr16:76407397-76407398 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs141148397 | chr16:76407411-76407412 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs150706518 | chr16:76407447-76407448 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs143269409 | chr16:76407448-76407449 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs370273671 | chr16:76407461-76407462 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs550857493 | chr16:76407471-76407472 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs570150904 | chr16:76407501-76407502 | Weak transcription | n/a | n/a | Overlapped CNVs | 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 | chr16:76394600-76409400 | Weak transcription | Brain Hippocampus Middle | brain |
2 | chr16:76395400-76421800 | Weak transcription | Brain Inferior Temporal Lobe | brain |
3 | chr16:76403200-76409600 | Weak transcription | Brain Cingulate Gyrus | brain |
4 | chr16:76405000-76409600 | Weak transcription | Brain Substantia Nigra | brain |