Variant report
| Variant | rs2985373 |
|---|---|
| Chromosome Location | chr1:179913907-179913908 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000135837 | Chromatin interaction |
| ENSG00000260360 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs10913918 | 0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1281384 | 0.92[ASN][1000 genomes] |
| rs1281386 | 0.92[ASN][1000 genomes] |
| rs1281389 | 0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2281805 | 1.00[ASN][1000 genomes] |
| rs2477114 | 0.86[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs2777910 | 0.92[ASN][1000 genomes] |
| rs4622030 | 0.81[EUR][1000 genomes] |
| rs504202 | 0.95[ASN][1000 genomes] |
| rs511332 | 0.95[ASN][1000 genomes] |
| rs521858 | 0.95[ASN][1000 genomes] |
| rs526683 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs533795 | 0.92[ASN][1000 genomes] |
| rs539324 | 0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs551607 | 0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs552743 | 0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs552763 | 0.85[ASN][1000 genomes] |
| rs561233 | 0.92[ASN][1000 genomes] |
| rs585355 | 0.91[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv429936 | chr1:179790343-180214343 | Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 72 gene(s) | inside rSNPs | diseases |
| 2 | nsv429947 | chr1:179790518-179925104 | Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
| 3 | esv1815608 | chr1:179813499-180067988 | Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| 4 | nsv429958 | chr1:179814306-179994628 | Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
