Variant report
Variant | nsv8359 |
---|---|
Chromosome Location | chr8:68546064-68555234 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:9)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:9 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:68546219..68548074-chr8:68552371..68554076,2 | MCF-7 | breast: | |
2 | chr8:68544829..68547462-chr8:68549274..68551822,2 | K562 | blood: | |
3 | chr8:68518664..68520365-chr8:68551960..68554902,2 | MCF-7 | breast: | |
4 | chr8:68547352..68551056-chr8:68551265..68553707,4 | K562 | blood: | |
5 | chr8:68544829..68547462-chr8:68549274..68551822,2 | K562 | blood: | |
6 | chr8:68548341..68551213-chr8:68551272..68553707,2 | K562 | blood: | |
7 | chr8:68547352..68551056-chr8:68551265..68553707,4 | K562 | blood: | |
8 | chr8:68546219..68548074-chr8:68552371..68554076,2 | MCF-7 | breast: | |
9 | chr8:68548341..68551213-chr8:68551272..68553707,2 | 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 | rs553629989 | chr8:68548255-68548256 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs11991669 | chr8:68548258-68548259 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs142734053 | chr8:68548275-68548276 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs556085263 | chr8:68548327-68548328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs78444647 | chr8:68548387-68548388 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs147358524 | chr8:68548392-68548393 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs6472325 | chr8:68548445-68548446 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs565159991 | chr8:68548454-68548455 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs527522091 | chr8:68548458-68548459 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs541216606 | chr8:68548534-68548535 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs561228682 | chr8:68548607-68548608 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs137883881 | chr8:68548637-68548638 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs572636060 | chr8:68548744-68548745 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs187363162 | chr8:68548764-68548765 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs563313456 | chr8:68548794-68548795 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs111987909 | chr8:68548795-68548796 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs542894026 | chr8:68548835-68548836 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs6472327 | chr8:68548904-68548905 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs566026833 | chr8:68548918-68548919 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs528851072 | chr8:68548993-68548994 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs534956991 | chr8:68549039-68549040 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
22 | rs144133322 | chr8:68549040-68549041 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
23 | rs567260331 | chr8:68549104-68549105 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
24 | rs144386552 | chr8:68549137-68549138 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
25 | rs555910495 | chr8:68549180-68549181 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
26 | rs377062237 | chr8:68549199-68549200 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
27 | rs573225754 | chr8:68550800-68550801 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs76657914 | chr8:68550812-68550813 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs74659108 | chr8:68550835-68550836 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs185737035 | chr8:68550892-68550893 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs544834523 | chr8:68550895-68550896 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs554552354 | chr8:68550900-68550901 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs574602783 | chr8:68550919-68550920 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs562447593 | chr8:68550924-68550925 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs533541208 | chr8:68550936-68550937 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs115281933 | chr8:68550940-68550941 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs143140461 | chr8:68550946-68550947 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs528136581 | chr8:68550962-68550963 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs407497 | chr8:68550977-68550978 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs148239522 | chr8:68550980-68550981 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs188965817 | chr8:68550994-68550995 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs72657264 | chr8:68551012-68551013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs192970835 | chr8:68551042-68551043 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs367627967 | chr8:68551052-68551053 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs367981747 | chr8:68551083-68551084 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs141258722 | chr8:68551112-68551113 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs570341776 | chr8:68551146-68551147 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs371224596 | chr8:68551151-68551152 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs532976093 | chr8:68551198-68551199 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs427451 | chr8:68551323-68551324 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 |
Hodgkin''s lymphoma | 17606441 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Testicular cancer | 18059402 | CNVD |
Acute lymphoblastic leukemia | 22237106 | 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 |
primary effusion lymphomas | 17116491 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Multiple myeloma | 16461302 | CNVD |
abnormal development | 18461090 | CNVD |
Cancer | 20164920 | 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 |
Salivary gland tumor | 18059337 | 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 |
Acute myeloid leukemia | 21251322 | 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 |
Colorectal cancer | 16272173 | CNVD |
Melanoma | 22183965 | CNVD |
Cancer | 21949371 | CNVD |
Non-small cell lung cancer | 21829676 | 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 |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Sezary syndrome | 18413736 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
head and neck squamous cell carcinoma | 16715129 | CNVD |
Prostate cancer | 16461572 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Breast cancer | 21399628 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
small cell lung cancer | 20016488 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:68548200-68548800 | Enhancers | Colon Smooth Muscle | Colon |
2 | chr8:68548200-68548800 | Enhancers | Rectal Smooth Muscle | rectum |
3 | chr8:68548600-68549000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
4 | chr8:68549000-68549200 | Bivalent Enhancer | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
5 | chr8:68550800-68552000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
6 | chr8:68550800-68552000 | Enhancers | Adipose Nuclei | Adipose |
7 | chr8:68551400-68553400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
8 | chr8:68551600-68551800 | Flanking Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
9 | chr8:68551600-68551800 | Enhancers | Esophagus | oesophagus |
10 | chr8:68551600-68552800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
11 | chr8:68551800-68552800 | Weak transcription | Esophagus | oesophagus |
12 | chr8:68551800-68553200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
13 | chr8:68552000-68552200 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
14 | chr8:68552000-68552400 | Weak transcription | Adipose Nuclei | Adipose |
15 | chr8:68552200-68553400 | Enhancers | Pancreas | Pancrea |
16 | chr8:68552400-68553200 | Enhancers | Adipose Nuclei | Adipose |
17 | chr8:68552800-68553400 | Enhancers | Esophagus | oesophagus |
18 | chr8:68553000-68553400 | Enhancers | Gastric | stomach |
19 | chr8:68553200-68553400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
20 | chr8:68553400-68553800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |