Variant report
Variant | nsv2885 |
---|---|
Chromosome Location | chr2:115647384-115693010 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:115649521..115650041-chr5:171906093..171906606,3 | MCF-7 | breast: |
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 | rs534550687 | chr2:115677605-115677606 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs540737459 | chr2:115677620-115677621 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs185529735 | chr2:115677664-115677665 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs189503468 | chr2:115677707-115677708 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs376976384 | chr2:115677720-115677721 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs10175888 | chr2:115677738-115677739 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs576830272 | chr2:115677759-115677760 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs138678944 | chr2:115677775-115677776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs553150786 | chr2:115677794-115677795 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs572667291 | chr2:115677814-115677815 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs60354042 | chr2:115677871-115677872 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs114346529 | chr2:115677886-115677887 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs149254762 | chr2:115677898-115677899 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs375486783 | chr2:115677900-115677901 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs543764026 | chr2:115677927-115677928 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs563537647 | chr2:115677959-115677960 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs532419430 | chr2:115677985-115677986 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs367879414 | chr2:115677992-115677993 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs373317738 | chr2:115683280-115683281 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs565548226 | chr2:115683293-115683294 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs527989399 | chr2:115683294-115683295 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs141775819 | chr2:115683302-115683303 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs561126371 | chr2:115683305-115683306 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs530154834 | chr2:115683323-115683324 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs376361449 | chr2:115683325-115683326 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs569848176 | chr2:115683338-115683339 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs532152303 | chr2:115683349-115683350 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs551970013 | chr2:115683372-115683373 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs571383159 | chr2:115683388-115683389 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs565926420 | chr2:115683393-115683394 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs536782201 | chr2:115683435-115683436 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs75955799 | chr2:115683453-115683454 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs182719635 | chr2:115683467-115683468 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs373007503 | chr2:115683475-115683476 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs537086541 | chr2:115683480-115683481 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs557073319 | chr2:115683483-115683484 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs577036514 | chr2:115683487-115683488 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs12623982 | chr2:115683514-115683515 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs559202474 | chr2:115683519-115683520 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs368314292 | chr2:115683521-115683522 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs572649930 | chr2:115683539-115683540 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs541358222 | chr2:115683584-115683585 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Breast cancer | 17603634 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ependymoma | 16718352 | CNVD |
Prostate cancer | 18632612 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Autism | 22495311 | CNVD |
Autism | 18522746 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Breast cancer | 16272173 | CNVD |
Lung cancer | 18438408 | CNVD |
Mowat-Wilson syndrome | 21572526 | CNVD |
Disorders of sex development | 21048976 | CNVD |
epilepsy | 18472482 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Autism | 16446308 | CNVD |
Autism | 19401682 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Colorectal cancer | 16272173 | CNVD |
myoclonus epilepsy | 18472482 | CNVD |
Benign familial neonatal-infantile seizures | 18472482 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Neuroticism | 17667963 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:115677600-115678000 | Enhancers | Brain Cingulate Gyrus | brain |
2 | chr2:115683200-115683600 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |