Variant report
Variant | rs2651243 |
---|---|
Chromosome Location | chr1:70995128-70995129 |
allele | A/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr1:70995040-70995190 | Caco-2 | colon: | n/a | n/a |
2 | SMC3 | chr1:70994042-70995325 | SK-N-SH | brain: | n/a | chr1:70994604-70994618 |
No data |
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000233020 | TF binding region |
ENSG00000050628 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs2651241 | 1.00[CHB][hapmap];0.90[JPT][hapmap] |
rs2651242 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2651244 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
rs2651245 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2651246 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2780749 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs2780750 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs2807905 | 1.00[CEU][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv999219 | chr1:70730556-71014911 | Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 49 gene(s) | inside rSNPs | diseases |
No data |