Variant report
Variant | esv3350126 |
---|---|
Chromosome Location | chr8:87218568-87219518 |
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 | chr8:87217894..87220561-chr8:87354206..87356206,2 | K562 | blood: | |
2 | chr8:87217991..87221144-chr8:87354089..87356606,3 | MCF-7 | breast: | |
3 | chr8:87216830..87219040-chr8:87220286..87222981,2 | MCF-7 | breast: | |
4 | chr6:34392407..34394897-chr8:87219096..87221567,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000123124 | chromatin interactions |
ENSG00000270800 | chromatin interactions |
ENSG00000254231 | chromatin interactions |
ENSG00000124614 | chromatin interactions |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs72075230 | chr8:87218580-87218581 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs200500827 | chr8:87218583-87218584 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs72606632 | chr8:87218601-87218602 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs148409066 | chr8:87218620-87218621 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
5 | rs79646691 | chr8:87218631-87218632 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs200616159 | chr8:87218660-87218661 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs549577674 | chr8:87218669-87218670 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
8 | rs527350074 | chr8:87218670-87218671 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs78957793 | chr8:87218680-87218681 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs557313487 | chr8:87218715-87218716 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs6991607 | chr8:87218723-87218724 | Inactive region | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs7014188 | chr8:87218747-87218748 | Inactive region | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs6470732 | chr8:87218866-87218867 | Inactive region | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs552478807 | chr8:87218900-87218901 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs569189806 | chr8:87218951-87218952 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs531801641 | chr8:87218953-87218954 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs548343992 | chr8:87218958-87218959 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs568215214 | chr8:87218997-87218998 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs533993442 | chr8:87219044-87219045 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs554239719 | chr8:87219067-87219068 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs568227247 | chr8:87219070-87219071 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs6470733 | chr8:87219072-87219073 | Inactive region | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs191801375 | chr8:87219100-87219101 | Inactive region | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
24 | rs540979923 | chr8:87219115-87219116 | Inactive region | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
25 | rs556514333 | chr8:87219132-87219133 | Inactive region | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
26 | rs375852918 | chr8:87219151-87219152 | Inactive region | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
27 | rs576377547 | chr8:87219168-87219169 | Inactive region | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
28 | rs6470734 | chr8:87219187-87219188 | Inactive region | Chromatin interactive region | 4 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs183217647 | chr8:87219244-87219245 | Inactive region | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
30 | rs116482223 | chr8:87219257-87219258 | Inactive region | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
31 | rs140544650 | chr8:87219264-87219265 | Inactive region | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
32 | rs76674754 | chr8:87219276-87219277 | Inactive region | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
33 | rs77553218 | chr8:87219336-87219337 | Inactive region | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
34 | rs144446735 | chr8:87219337-87219338 | Inactive region | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
35 | rs35596864 | chr8:87219473-87219474 | Inactive region | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
36 | rs562862348 | chr8:87219487-87219488 | Inactive region | Chromatin interactive region | 4 gene(s) | 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 |
Autism | 22495311 | 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 |
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 |
Esophageal cancer | 20955586 | CNVD |
Multiple myeloma | 16461302 | 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 |
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 |
Acute lymphoblastic leukemia | 18458336 | 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 |
Epilepsy | 20502679 | CNVD |
Autism | 20841430 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 20409316 | CNVD |
Acute myeloid leukemia | 19651601 | CNVD |
head and neck squamous cell carcinoma | 19451471 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Rett syndrome | 21593744 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |