Variant report
Variant | rs12472731 |
---|---|
Chromosome Location | chr2:142522401-142522402 |
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 | chr2:142519003..142520660-chr2:142522253..142524916,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10496900 | 0.89[CEU][hapmap] |
rs12468990 | 0.89[CEU][hapmap];0.82[YRI][hapmap] |
rs12470956 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12472879 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs16847133 | 0.90[MEX][hapmap] |
rs16847142 | 0.90[MEX][hapmap] |
rs17747853 | 0.89[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap] |
rs17815364 | 0.89[CEU][hapmap] |
rs1949010 | 0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap] |
rs6749148 | 0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs7580194 | 0.93[GIH][hapmap] |
rs7584645 | 1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv834394 | chr2:142430225-142593264 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
2 | nsv530398 | chr2:142474842-142843839 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
3 | nsv459663 | chr2:142509570-142568465 | Weak transcription Enhancers Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | n/a |
4 | nsv583236 | chr2:142509570-142568465 | Weak transcription Enhancers Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | n/a |
5 | nsv1004379 | chr2:142514657-142547597 | Weak transcription Enhancers Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | n/a |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:142520400-142523200 | Weak transcription | Dnd41 | blood |