Variant report
Variant | esv17164 |
---|---|
Chromosome Location | chr7:16876288-16878794 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr7:16878260-16878410 | GM12869 | blood: | n/a | n/a |
2 | MXI1 | chr7:16878460-16878483 | K562 | blood: | n/a | n/a |
3 | POLR2A | chr7:16878424-16878439 | MCF10A-Er-Src | breast: | n/a | n/a |
4 | STAT3 | chr7:16877592-16877683 | MCF10A-Er-Src | breast: | n/a | n/a |
5 | UBTF | chr7:16877246-16877404 | K562 | blood: | n/a | n/a |
No data |
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
AGR2 | TF binding region |
ENSG00000106541 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs116473321 | chr7:16876303-16876304 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs10270767 | chr7:16876330-16876331 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs10270773 | chr7:16876345-16876346 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs115082695 | chr7:16876362-16876363 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs369151495 | chr7:16876395-16876396 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs553631542 | chr7:16876419-16876420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs10271138 | chr7:16876447-16876448 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs187997177 | chr7:16876455-16876456 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs563527384 | chr7:16876473-16876474 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs530934799 | chr7:16876575-16876576 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs543814876 | chr7:16876592-16876593 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs386710775 | chr7:16876627-16876628 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs10271392 | chr7:16876628-16876629 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs192476343 | chr7:16876630-16876631 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs6949909 | chr7:16876643-16876644 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs10271396 | chr7:16876648-16876649 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs574384386 | chr7:16876678-16876679 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs529939595 | chr7:16876681-16876682 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs183860408 | chr7:16876753-16876754 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs73680412 | chr7:16876757-16876758 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs537057520 | chr7:16876759-16876760 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs10271320 | chr7:16876798-16876799 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs559768873 | chr7:16876829-16876830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs189354567 | chr7:16876838-16876839 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs140502255 | chr7:16876841-16876842 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs192724215 | chr7:16876863-16876864 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs371821779 | chr7:16876889-16876890 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs551605929 | chr7:16876894-16876895 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs575023106 | chr7:16876919-16876920 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs542110158 | chr7:16876940-16876941 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs184719176 | chr7:16876949-16876950 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs565346263 | chr7:16876976-16876977 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs545815415 | chr7:16877029-16877030 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs150426340 | chr7:16877058-16877059 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs145377735 | chr7:16877069-16877070 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs532989150 | chr7:16877081-16877082 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs540370381 | chr7:16877096-16877097 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs201627535 | chr7:16877112-16877113 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs199781991 | chr7:16877114-16877115 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs559281529 | chr7:16877130-16877131 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs569660484 | chr7:16877134-16877135 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs189535183 | chr7:16877217-16877218 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs149185608 | chr7:16877232-16877233 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs535351369 | chr7:16877237-16877238 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs563619396 | chr7:16877242-16877243 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs548598452 | chr7:16877243-16877244 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs10271919 | chr7:16877244-16877245 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs552183228 | chr7:16877267-16877268 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs531056810 | chr7:16877304-16877305 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs75514042 | chr7:16877324-16877325 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Melanoma | 18172304 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Lynch syndrome | 18415027 | CNVD |
Biliary cancer | 19435499 | CNVD |
Cancer | 16751803 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Wilms tumour | 21544195 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Astrocytoma | 17387387 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Glioma | 21971842 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Oral cancer | 21386901 | CNVD |
colon cancer | 17210682 | CNVD |
Lung adenocarcinoma | 21810691 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Hypothalamic hamartomas | 18252217 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
head and neck squamous cell carcinoma | 19289630 | CNVD |
Stenocardia | 21860640 | CNVD |
Vasospasm | 21860640 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 21364760 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Lung cancer | 18438408 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Leukemia | 23979775 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Autism | 22495311 | CNVD |
Prostate cancer | 16573809 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Melanoma | 17363583 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Prostate cancer | 19242612 | CNVD |
Autism | 18414403 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 21858162 | CNVD |
Pleomorphic liposarcoma | 18784837 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Cancer | 21637783 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Breast cancer | 16397240 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Heart disease | 21282601 | CNVD |
Rubinstein-Taybi syndrome | 22470819 | CNVD |
Alzheimer''s disease | 22166940 | CNVD |
Abnormal phenotypes | 18644119 | CNVD |
Non-syndromic sensorineural hearing loss | 22570644 | CNVD |
Bladder cancer | 21909424 | CNVD |
Cancer | 21183584 | CNVD |
Autism | 20808228 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Autism | 22495309 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:16875800-16878400 | Enhancers | Placenta Amnion | Placenta Amnion |
2 | chr7:16878000-16878600 | Enhancers | A549 | lung |
3 | chr7:16878000-16879800 | Enhancers | Muscle Satellite Cultured Cells | -- |
4 | chr7:16878200-16878400 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
5 | chr7:16878200-16878400 | Enhancers | HSMM | muscle |
6 | chr7:16878200-16878400 | Enhancers | Osteobl | bone |
7 | chr7:16878200-16878800 | Enhancers | Primary B cells from peripheral blood | blood |
8 | chr7:16878400-16879200 | Weak transcription | HSMM | muscle |
9 | chr7:16878400-16879400 | Weak transcription | Placenta Amnion | Placenta Amnion |
10 | chr7:16878400-16879600 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
11 | chr7:16878600-16878800 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
12 | chr7:16878600-16879000 | Enhancers | Primary B cells from cord blood | blood |
13 | chr7:16878600-16879000 | Weak transcription | A549 | lung |
14 | chr7:16878600-16879600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
15 | chr7:16878600-16879600 | Weak transcription | Osteobl | bone |