Variant report
| Variant | rs11050227 |
|---|---|
| Chromosome Location | chr12:29577199-29577200 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| OVCH1-AS1 | TF binding region |
| ENSG00000257599 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs10161532 | 1.00[AMR][1000 genomes] |
| rs10492378 | 1.00[AMR][1000 genomes] |
| rs11050228 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11050230 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12304563 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12305868 | 1.00[AMR][1000 genomes] |
| rs12314430 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12314964 | 1.00[AMR][1000 genomes] |
| rs12315111 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12318046 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12319953 | 0.82[AFR][1000 genomes] |
| rs12320036 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12321184 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1369901 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs16934299 | 1.00[AMR][1000 genomes] |
| rs34730070 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3816113 | 1.00[AMR][1000 genomes] |
| rs56331080 | 1.00[AMR][1000 genomes] |
| rs56753618 | 1.00[AMR][1000 genomes] |
| rs57061071 | 1.00[AMR][1000 genomes] |
| rs74081043 | 1.00[AMR][1000 genomes] |
| rs74081044 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1053641 | chr12:29268813-29854413 | Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 40 gene(s) | inside rSNPs | diseases |
| 2 | nsv898952 | chr12:29565537-29617550 | Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv525100 | chr12:29576517-29585955 | Weak transcription Enhancers Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:29571000-29583400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
