Variant report
| Variant | rs1444220 |
|---|---|
| Chromosome Location | chr12:40922104-40922105 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:3)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:3 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-CNTN1-1 | chr12:40922059-40922111 | XLOC_009713 |
| 2 | lnc-CNTN1-1 | chr12:40922059-40922109 | XLOC_009713 |
| 3 | lnc-CNTN1-1 | chr12:40922059-40922109 | NONHSAT027733 |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs10878731 | 0.81[JPT][hapmap] |
| rs1492318 | 0.81[JPT][hapmap] |
| rs1492319 | 0.81[JPT][hapmap] |
| rs1838352 | 0.85[ASN][1000 genomes] |
| rs2588399 | 0.90[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes] |
| rs2920820 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2920821 | 1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes] |
| rs2920828 | 0.83[ASN][1000 genomes] |
| rs2933352 | 0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes] |
| rs7133943 | 0.83[ASW][hapmap];0.82[YRI][hapmap] |
| rs7308571 | 0.81[YRI][hapmap] |
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 | nsv899033 | chr12:40758652-41122288 | Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
| 2 | nsv8970 | chr12:40904094-40951213 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 3 | esv3388339 | chr12:40917344-40931738 | Enhancers Weak transcription | TF binding regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
