Variant report
| Variant | rs12297453 |
|---|---|
| Chromosome Location | chr12:119892838-119892839 |
| allele | A/G |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- 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 | chr12:119891011..119892854-chr12:119894450..119896303,2 | K562 | blood: |
(count:1 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-CIT-8 | chr12:119892024-119894478 | l_742_NR_024345 |
| No data |
| No data |
| No data |
| rs_ID | r2[population] |
|---|---|
| rs11064793 | 0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs12303615 | 0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs12305024 | 0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs12322638 | 0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1880985 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2519543 | 0.87[CHB][hapmap] |
| rs2727741 | 0.87[CHB][hapmap];0.92[JPT][hapmap] |
| rs477467 | 0.87[CHB][hapmap];0.83[JPT][hapmap] |
| rs482802 | 0.83[JPT][hapmap] |
| rs487818 | 0.87[CHB][hapmap];0.83[JPT][hapmap] |
| rs518202 | 0.87[CHB][hapmap];0.83[JPT][hapmap] |
| rs520809 | 0.87[CHB][hapmap] |
| rs529501 | 0.87[CHB][hapmap];0.83[JPT][hapmap] |
| rs560785 | 0.89[CHB][hapmap];0.83[JPT][hapmap] |
| rs56105768 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56211979 | 0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs67884573 | 0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs73217290 | 0.96[ASN][1000 genomes] |
| rs7968484 | 0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7971941 | 0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs953693 | 0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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 | 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 | nsv832529 | chr12:119863378-120071646 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |





