Variant report
| Variant | rs708885 |
|---|---|
| Chromosome Location | chr12:119958215-119958216 |
| allele | G/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 | chr12:119957963..119959771-chr12:119961069..119962984,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
| rs_ID | r2[population] |
|---|---|
| rs1090247 | 0.91[CEU][hapmap] |
| rs1632184 | 0.89[GIH][hapmap] |
| rs1716458 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap] |
| rs1727428 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap] |
| rs2695512 | 1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap] |
| rs2711744 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs579005 | 0.88[CHD][hapmap];0.92[JPT][hapmap] |
| rs708884 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs708887 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes] |
| rs708889 | 0.91[CEU][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap] |
| rs784847 | 0.91[CEU][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap] |
| rs809225 | 0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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 | 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 |





