Variant report
Variant | nsv983250 |
---|---|
Chromosome Location | chr12:75930389-75937391 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:6 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:75926063..75928483-chr12:75932746..75935493,2 | MCF-7 | breast: | |
2 | chr12:75929088..75931284-chr12:75931608..75933193,2 | K562 | blood: | |
3 | chr12:75936274..75938020-chr12:75944642..75947136,2 | MCF-7 | breast: | |
4 | chr12:75929088..75931284-chr12:75931608..75933193,2 | K562 | blood: | |
5 | chr12:75928636..75930882-chr12:76424583..76427526,2 | MCF-7 | breast: | |
6 | chr12:75933570..75936555-chr12:75937719..75939440,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000257839 | chromatin interactions |
ENSG00000139289 | chromatin interactions |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs543481086 | chr12:75930425-75930426 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs377076317 | chr12:75930439-75930440 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs575870654 | chr12:75930468-75930469 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs2054518 | chr12:75930487-75930488 | Enhancers | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
5 | rs561696321 | chr12:75930506-75930507 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs146384462 | chr12:75930513-75930514 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs12296413 | chr12:75930637-75930638 | Enhancers | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs563893349 | chr12:75930672-75930673 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs533070129 | chr12:75930679-75930680 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs549936879 | chr12:75930687-75930688 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs565980044 | chr12:75930735-75930736 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs373662551 | chr12:75930788-75930789 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs139550015 | chr12:75930791-75930792 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs534593578 | chr12:75930806-75930807 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs529557859 | chr12:75930867-75930868 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs572524124 | chr12:75936811-75936812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs12819985 | chr12:75936817-75936818 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
18 | rs558216755 | chr12:75936886-75936887 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs533602693 | chr12:75936899-75936900 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs576664977 | chr12:75936902-75936903 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs545588353 | chr12:75936914-75936915 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs562443863 | chr12:75936949-75936950 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs368585343 | chr12:75937030-75937031 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs575889537 | chr12:75937038-75937039 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs190852571 | chr12:75937045-75937046 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs13328950 | chr12:75937075-75937076 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs546535121 | chr12:75937098-75937099 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs547211223 | chr12:75937124-75937125 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs116648972 | chr12:75937129-75937130 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs533614340 | chr12:75937163-75937164 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs530379167 | chr12:75937174-75937175 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs183949055 | chr12:75937186-75937187 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Autism | 22495311 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 21949216 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 21637783 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 17899364 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Cancer | 16751803 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Melanoma | 18172304 | CNVD |
Glioblastoma multiforme | 21390271 | CNVD |
Cancer | 20164919 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 21785460 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
abnormal development | 18461090 | CNVD |
Prostate cancer | 18632612 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 22032731 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 21364760 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:75930400-75930800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
2 | chr12:75936800-75937000 | Enhancers | HSMM | muscle |
3 | chr12:75936800-75937200 | Enhancers | Osteobl | bone |