Variant report
Variant | esv11887 |
---|---|
Chromosome Location | chr8:104758530-104762943 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:4 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:104762301..104762819-chr8:105430358..105430902,2 | MCF-7 | breast: | |
2 | chr8:104762214..104762784-chr8:105454364..105455090,2 | MCF-7 | breast: | |
3 | chr8:104761856..104762718-chr8:105142470..105143058,2 | MCF-7 | breast: | |
4 | chr8:104762093..104762743-chr8:105377757..105378640,2 | K562 | blood: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs79833073 | chr8:104758538-104758539 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs530942167 | chr8:104758616-104758617 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs549381764 | chr8:104758656-104758657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs568390893 | chr8:104758674-104758675 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs557371237 | chr8:104758738-104758739 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs539147531 | chr8:104758793-104758794 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs184545666 | chr8:104758795-104758796 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs547609639 | chr8:104758836-104758837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs565746896 | chr8:104758850-104758851 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs111337566 | chr8:104758861-104758862 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs6985107 | chr8:104758874-104758875 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs114656817 | chr8:104758876-104758877 | Weak transcription | n/a | n/a | Overlapped CNVs | mRNA abundance |
13 | rs3110473 | chr8:104758890-104758891 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs142437237 | chr8:104758931-104758932 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs553983959 | chr8:104758972-104758973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs573992007 | chr8:104758977-104758978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs534999321 | chr8:104758991-104758992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs201652558 | chr8:104758995-104758996 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs542808694 | chr8:104759000-104759001 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs545582740 | chr8:104759012-104759013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs189376195 | chr8:104759070-104759071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs575785196 | chr8:104759071-104759072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs7003269 | chr8:104759075-104759076 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs140482339 | chr8:104759104-104759105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs528446910 | chr8:104759116-104759117 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs545072480 | chr8:104759127-104759128 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs181432915 | chr8:104759129-104759130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs370191039 | chr8:104759151-104759152 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs559572369 | chr8:104759204-104759205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs144219713 | chr8:104759262-104759263 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs186648321 | chr8:104759273-104759274 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs35423526 | chr8:104759303-104759304 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs190372934 | chr8:104759410-104759411 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs547122997 | chr8:104759427-104759428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs373651638 | chr8:104759435-104759436 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs548611962 | chr8:104759475-104759476 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs200250770 | chr8:104759506-104759507 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs567152047 | chr8:104759533-104759534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs79840034 | chr8:104759621-104759622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs553404244 | chr8:104759637-104759638 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs144184832 | chr8:104759659-104759660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs578183067 | chr8:104759665-104759666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs141011454 | chr8:104759766-104759767 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs557585024 | chr8:104759885-104759886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs575848401 | chr8:104759917-104759918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs35396754 | chr8:104759918-104759919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs371070127 | chr8:104759919-104759920 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs565234293 | chr8:104759968-104759969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs543153385 | chr8:104760004-104760005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs561387513 | chr8:104760051-104760052 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Seminomas | 18059402 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Testicular cancer | 18059402 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Cancer | 20164919 | CNVD |
abnormal development | 18461090 | CNVD |
Oral cancer | 21386901 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 16751803 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Prostate cancer | 18632612 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Cancer | 21949371 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Acute myeloid leukemia | 21358987 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Prostate cancer | 16461572 | CNVD |
Breast cancer | 21399628 | CNVD |
small cell lung cancer | 20016488 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Breast cancer | 17393978 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Bladder cancer | 19088036 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17899364 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Autosomal-dominant progressive external ophthalmoplegia | 19664747 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Colorectal cancer | 16912164 | CNVD |
Breast cancer | 20409316 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
Breast cancer | 21611746 | CNVD |
Developmental delay | 21147756 | CNVD |
Oral squamous cell carcinoma | 21853135 | CNVD |
Congenital diaphragmatic hernia | 21525063 | CNVD |
Prostate cancer | 22341455 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:104750400-104778600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr8:104757000-104769800 | Weak transcription | H1 Cell Line | embryonic stem cell |
3 | chr8:104757000-104780400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
4 | chr8:104762800-104763400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |