Variant report
| Variant | rs4882972 |
|---|---|
| Chromosome Location | chr12:9120903-9120904 |
| allele | C/T |
| 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 | chr12:9099223..9102026-chr12:9119654..9122322,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000003056 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs1049948 | 1.00[ASN][1000 genomes] |
| rs11048354 | 0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12297905 | 1.00[ASN][1000 genomes] |
| rs12313493 | 1.00[ASN][1000 genomes] |
| rs12313494 | 1.00[ASN][1000 genomes] |
| rs12314142 | 1.00[ASN][1000 genomes] |
| rs12314310 | 1.00[ASN][1000 genomes] |
| rs12317136 | 1.00[ASN][1000 genomes] |
| rs16917943 | 1.00[ASN][1000 genomes] |
| rs16917957 | 1.00[ASN][1000 genomes] |
| rs1805696 | 1.00[ASN][1000 genomes] |
| rs1805750 | 0.83[EUR][1000 genomes] |
| rs28769384 | 1.00[ASN][1000 genomes] |
| rs3026237 | 1.00[ASN][1000 genomes] |
| rs3026240 | 1.00[ASN][1000 genomes] |
| rs4882973 | 1.00[ASN][1000 genomes] |
| rs4882974 | 1.00[ASN][1000 genomes] |
| rs4883207 | 1.00[ASN][1000 genomes] |
| rs4883210 | 1.00[ASN][1000 genomes] |
| rs56759930 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7296548 | 1.00[ASN][1000 genomes] |
| rs7310680 | 1.00[ASN][1000 genomes] |
| rs7311244 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7312460 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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 | nsv832327 | chr12:9081779-9246220 | Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 25 gene(s) | inside rSNPs | diseases |
| 2 | nsv1045317 | chr12:9113216-9544655 | Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 38 gene(s) | inside rSNPs | diseases |
| 3 | nsv819596 | chr12:9113514-9141537 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:9109000-9121600 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
