Variant report
| Variant | rs72729144 |
|---|---|
| Chromosome Location | chr1:190150555-190150556 |
| allele | A/C/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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:190142617..190144929-chr1:190148511..190151415,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs1177692 | 0.93[AFR][1000 genomes] |
| rs6665945 | 0.84[AFR][1000 genomes] |
| rs6672733 | 0.89[AFR][1000 genomes] |
| rs6677182 | 0.93[AFR][1000 genomes] |
| rs72729133 | 0.99[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs72729136 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72729140 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72729142 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72729143 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72729145 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72729146 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72729154 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72729160 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs72729190 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs72729192 | 0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs72731128 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv548532 | chr1:189758772-190371671 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv917005 | chr1:189855484-190259380 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv832104 | chr1:189990148-190186708 | Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 4 | nsv932040 | chr1:190005334-190914580 | Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 5 | nsv1003035 | chr1:190123195-190291554 | ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 6 | nsv872755 | chr1:190135811-190186387 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:190149200-190152000 | Weak transcription | Fetal Heart | heart |
