Variant report
| Variant | rs7296648 |
|---|---|
| Chromosome Location | chr12:119857079-119857080 |
| 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 | chr12:119856554..119857225-chr12:120086612..120087366,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs10774493 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs10849649 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs11064769 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs11064774 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs12099460 | 0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12306000 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs12306360 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs12306535 | 0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs12314123 | 1.00[ASN][1000 genomes] |
| rs12708370 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs12825835 | 0.82[AFR][1000 genomes] |
| rs12830127 | 1.00[ASN][1000 genomes] |
| rs2285401 | 1.00[CHB][hapmap] |
| rs2393547 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs34161061 | 1.00[ASN][1000 genomes] |
| rs34765258 | 0.86[AFR][1000 genomes] |
| rs35135358 | 1.00[ASN][1000 genomes] |
| rs35143406 | 1.00[ASN][1000 genomes] |
| rs35785729 | 1.00[ASN][1000 genomes] |
| rs4238064 | 1.00[ASN][1000 genomes] |
| rs4767814 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs4767816 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs7297109 | 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 | nsv1047036 | chr12:119477583-119992640 | Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 2 | nsv916688 | chr12:119801814-120044407 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv899553 | chr12:119837250-119876571 | Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:119851600-119872400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr12:119856800-119857400 | Active TSS | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
