Variant report
| Variant | rs12128914 |
|---|---|
| Chromosome Location | chr1:184287575-184287576 |
| 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 | chr1:184283540..184285306-chr1:184286972..184289603,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000207080 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs10911556 | 0.87[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes] |
| rs10911557 | 0.84[EUR][1000 genomes] |
| rs10911560 | 0.80[EUR][1000 genomes] |
| rs12069709 | 0.80[EUR][1000 genomes] |
| rs12096575 | 0.81[MEX][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes] |
| rs12727053 | 0.80[EUR][1000 genomes] |
| rs12727591 | 0.84[EUR][1000 genomes] |
| rs16822848 | 0.84[ASN][1000 genomes] |
| rs34782871 | 0.80[EUR][1000 genomes] |
| rs4618934 | 0.84[EUR][1000 genomes] |
| rs4622032 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6424946 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73059572 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73059573 | 0.92[ASN][1000 genomes] |
| rs7516012 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9645302 | 0.86[MEX][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv530079 | chr1:183797938-184639971 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:4)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12128914 | ZNF648 | cis | parietal | SCAN |
| rs12128914 | PDC | cis | cerebellum | SCAN |
| rs12128914 | C1orf125 | cis | parietal | SCAN |
| rs12128914 | C8orf12 | trans | parietal | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
