Variant report
| Variant | rs57488672 |
|---|---|
| Chromosome Location | chr2:48208169-48208170 |
| allele | A/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 | chr2:48131658..48133539-chr2:48207154..48209102,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000233230 | Chromatin interaction |
| ENSG00000138081 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:40)
| rs_ID | r2[population] |
|---|---|
| rs11893417 | 1.00[AMR][1000 genomes] |
| rs11897391 | 1.00[AMR][1000 genomes] |
| rs11899162 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11901147 | 1.00[AMR][1000 genomes] |
| rs1483211 | 1.00[AMR][1000 genomes] |
| rs1483212 | 1.00[AMR][1000 genomes] |
| rs17037095 | 1.00[AMR][1000 genomes] |
| rs17037118 | 1.00[AMR][1000 genomes] |
| rs17037121 | 1.00[AMR][1000 genomes] |
| rs17037139 | 1.00[AMR][1000 genomes] |
| rs17037152 | 1.00[AMR][1000 genomes] |
| rs2881937 | 1.00[AMR][1000 genomes] |
| rs55877668 | 1.00[AMR][1000 genomes] |
| rs56136838 | 1.00[AMR][1000 genomes] |
| rs56162077 | 1.00[AMR][1000 genomes] |
| rs56244209 | 1.00[AMR][1000 genomes] |
| rs57023060 | 1.00[AMR][1000 genomes] |
| rs58394027 | 1.00[AMR][1000 genomes] |
| rs60806982 | 1.00[AMR][1000 genomes] |
| rs61615260 | 1.00[AMR][1000 genomes] |
| rs72876865 | 1.00[AMR][1000 genomes] |
| rs73927914 | 1.00[AMR][1000 genomes] |
| rs73927920 | 1.00[AMR][1000 genomes] |
| rs73927925 | 1.00[AMR][1000 genomes] |
| rs73927926 | 1.00[AMR][1000 genomes] |
| rs73927927 | 1.00[AMR][1000 genomes] |
| rs73927928 | 1.00[AMR][1000 genomes] |
| rs73927929 | 1.00[AMR][1000 genomes] |
| rs73927931 | 1.00[AMR][1000 genomes] |
| rs73927934 | 1.00[AMR][1000 genomes] |
| rs73927935 | 1.00[AMR][1000 genomes] |
| rs73927937 | 1.00[AMR][1000 genomes] |
| rs73927938 | 1.00[AMR][1000 genomes] |
| rs73927940 | 1.00[AMR][1000 genomes] |
| rs73927942 | 1.00[AMR][1000 genomes] |
| rs73927945 | 1.00[AMR][1000 genomes] |
| rs73927946 | 1.00[AMR][1000 genomes] |
| rs73927949 | 1.00[AMR][1000 genomes] |
| rs73927950 | 1.00[AMR][1000 genomes] |
| rs7568794 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1009769 | chr2:47972642-48509765 | Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
| 2 | nsv535680 | chr2:47972642-48509765 | Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
| 3 | nsv530831 | chr2:48059709-48632317 | Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| 4 | nsv519831 | chr2:48072855-48566031 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 5 | nsv874000 | chr2:48078838-48291582 | Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 6 | nsv1003766 | chr2:48102244-48559654 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 7 | nsv519761 | chr2:48146122-48248101 | Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 8 | nsv1000455 | chr2:48202161-48362638 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | Chromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
