Variant report
| Variant | rs553310 |
|---|---|
| Chromosome Location | chr1:78865211-78865212 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:30)
| rs_ID | r2[population] |
|---|---|
| rs10489786 | 0.94[YRI][hapmap];0.82[AFR][1000 genomes] |
| rs11162483 | 1.00[YRI][hapmap] |
| rs1156032 | 0.84[AFR][1000 genomes] |
| rs1332255 | 0.82[AFR][1000 genomes] |
| rs1332256 | 0.92[YRI][hapmap];0.82[AFR][1000 genomes] |
| rs1412846 | 1.00[YRI][hapmap];0.92[AFR][1000 genomes] |
| rs17101751 | 0.92[AFR][1000 genomes] |
| rs1888894 | 0.94[YRI][hapmap];0.82[AFR][1000 genomes] |
| rs1888895 | 0.94[YRI][hapmap];0.82[AFR][1000 genomes] |
| rs1888896 | 0.87[YRI][hapmap] |
| rs2149032 | 1.00[YRI][hapmap];0.91[AFR][1000 genomes] |
| rs4650347 | 0.81[YRI][hapmap];0.89[AFR][1000 genomes] |
| rs487376 | 1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs494131 | 0.80[YRI][hapmap];0.92[AFR][1000 genomes] |
| rs540676 | 0.83[YRI][hapmap];1.00[AMR][1000 genomes] |
| rs564407 | 0.81[YRI][hapmap];0.92[AFR][1000 genomes] |
| rs569846 | 0.92[AFR][1000 genomes] |
| rs574426 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs576056 | 0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs581338 | 1.00[YRI][hapmap];0.92[AFR][1000 genomes] |
| rs599583 | 1.00[YRI][hapmap];0.92[AFR][1000 genomes] |
| rs601137 | 0.92[AFR][1000 genomes] |
| rs602865 | 1.00[YRI][hapmap];0.92[AFR][1000 genomes] |
| rs626770 | 0.92[AFR][1000 genomes] |
| rs640003 | 1.00[YRI][hapmap];0.92[AFR][1000 genomes] |
| rs6424768 | 0.87[AFR][1000 genomes] |
| rs6424769 | 0.91[AFR][1000 genomes] |
| rs645528 | 0.92[AFR][1000 genomes] |
| rs664465 | 0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs676130 | 1.00[YRI][hapmap];0.92[AFR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1013008 | chr1:78463173-78958701 | Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 72 gene(s) | inside rSNPs | diseases |
| 2 | nsv535012 | chr1:78463173-78958701 | Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 72 gene(s) | inside rSNPs | diseases |
| 3 | nsv871835 | chr1:78528803-79501129 | Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
| 4 | nsv482697 | chr1:78786028-78935333 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:78862400-78874600 | Weak transcription | Fetal Muscle Leg | muscle |
