Variant report
Variant | esv2516604 |
---|---|
Chromosome Location | chr7:96522202-96523620 |
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 | rs557671754 | chr7:96522218-96522219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs187696352 | chr7:96522286-96522287 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs192203045 | chr7:96522323-96522324 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs386715946 | chr7:96522335-96522336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs6465564 | chr7:96522336-96522337 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs557031687 | chr7:96522387-96522388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs113939239 | chr7:96522397-96522398 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs575361752 | chr7:96522416-96522417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs576812552 | chr7:96522417-96522418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs6465565 | chr7:96522421-96522422 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs556211529 | chr7:96522460-96522461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs181309563 | chr7:96522517-96522518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs535811930 | chr7:96522531-96522532 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs554629292 | chr7:96522539-96522540 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs556019754 | chr7:96522546-96522547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs572374170 | chr7:96522552-96522553 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs184693133 | chr7:96522588-96522589 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs564104790 | chr7:96522623-96522624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs577736863 | chr7:96522627-96522628 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs543464610 | chr7:96522645-96522646 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs563150258 | chr7:96522648-96522649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs529084560 | chr7:96522681-96522682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs374397324 | chr7:96522685-96522686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs549037188 | chr7:96522709-96522710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs7799380 | chr7:96522710-96522711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs375008942 | chr7:96522757-96522758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs113471805 | chr7:96522759-96522760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs573209453 | chr7:96522812-96522813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs372371297 | chr7:96522830-96522831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs559582963 | chr7:96522936-96522937 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs189358386 | chr7:96522949-96522950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs551547588 | chr7:96522986-96522987 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs386715947 | chr7:96523059-96523060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs571216412 | chr7:96523065-96523066 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs537154866 | chr7:96523067-96523068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs550685069 | chr7:96523071-96523072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs576143302 | chr7:96523097-96523098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs180805634 | chr7:96523114-96523115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs559692882 | chr7:96523126-96523127 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs375494299 | chr7:96523130-96523131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs533154225 | chr7:96523150-96523151 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs113759435 | chr7:96523189-96523190 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs139344044 | chr7:96523245-96523246 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs112644804 | chr7:96523288-96523289 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs35439506 | chr7:96523294-96523295 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs572713153 | chr7:96523333-96523334 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs144107077 | chr7:96523380-96523381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs7803481 | chr7:96523390-96523391 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs577574886 | chr7:96523428-96523429 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs193268 | chr7:96523473-96523474 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 17170743 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Malaria | 21533027 | CNVD |
Melanoma | 18172304 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
head and neck squamous cell carcinoma | 19289630 | CNVD |
Stenocardia | 21860640 | CNVD |
Vasospasm | 21860640 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 22495311 | CNVD |
Wilms tumour | 21544195 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Cancer | 21183584 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Gastric cancer | 24379144 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Lissencephaly | 21572526 | CNVD |
Breast cancer | 17603634 | CNVD |
Liposarcoma | 21253554 | CNVD |
Breast cancer | 16397240 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 21264507 | CNVD |
Shwachman-Diamond syndrome | 22934832 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Cutaneous malignant melanoma | 17690212 | CNVD |
Leukemia | 17361228 | CNVD |
Breast cancer | 16461572 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Malignant melanoma | 17690212 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Multiple myeloma | 17550852 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Lung cancer | 18438408 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Schizophrenia | 17879154 | CNVD |
Prostate cancer | 16573809 | CNVD |
Prostate cancer | 16461572 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Autism | 20858243 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Malignant melanoma | 17260012 | CNVD |
Myoclonus-dystonia | 17898012 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Cancer | 20164920 | CNVD |
abnormal development | 18461090 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21785460 | CNVD |
Myelofibrosis | 22110671 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:96518000-96523400 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
2 | chr7:96523400-96524800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |