Variant report
| Variant | rs312264 |
|---|---|
| Chromosome Location | chr12:41251889-41251890 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs10784917 | 0.82[ASN][1000 genomes] |
| rs10784918 | 0.82[ASN][1000 genomes] |
| rs11178982 | 0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap] |
| rs1442187 | 0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1583956 | 0.87[ASN][1000 genomes] |
| rs167492 | 0.91[ASN][1000 genomes] |
| rs17621741 | 0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap] |
| rs192852 | 0.91[ASN][1000 genomes] |
| rs2405507 | 0.90[ASN][1000 genomes] |
| rs2772458 | 0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs312265 | 0.90[ASN][1000 genomes] |
| rs312266 | 0.91[ASN][1000 genomes] |
| rs312267 | 0.86[AFR][1000 genomes] |
| rs312268 | 0.86[AFR][1000 genomes] |
| rs312269 | 0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs312272 | 0.91[ASN][1000 genomes] |
| rs312273 | 0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs312277 | 0.84[AFR][1000 genomes] |
| rs312278 | 0.84[AFR][1000 genomes] |
| rs312279 | 0.84[AFR][1000 genomes] |
| rs312280 | 0.86[AFR][1000 genomes] |
| rs312284 | 0.84[AFR][1000 genomes] |
| rs4768319 | 0.81[JPT][hapmap] |
| rs7970381 | 0.91[JPT][hapmap] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv427909 | chr12:41054306-41322257 | Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 2 | nsv832380 | chr12:41132306-41323961 | Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs312264 | CNTN1 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:41226800-41266400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
