Variant report
| Variant | rs1613680 |
|---|---|
| Chromosome Location | chr1:75795384-75795385 |
| 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 | chr1:75784252..75785931-chr1:75795066..75796962,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:30)
| rs_ID | r2[population] |
|---|---|
| rs1004053 | 0.96[ASN][1000 genomes] |
| rs10493571 | 0.88[ASN][1000 genomes] |
| rs10493573 | 0.89[ASN][1000 genomes] |
| rs10874149 | 0.96[ASN][1000 genomes] |
| rs11163074 | 0.93[ASN][1000 genomes] |
| rs11163089 | 0.88[ASN][1000 genomes] |
| rs11163095 | 0.88[ASN][1000 genomes] |
| rs11163154 | 0.89[ASN][1000 genomes] |
| rs11163155 | 0.89[ASN][1000 genomes] |
| rs11163185 | 0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12038999 | 0.89[ASN][1000 genomes] |
| rs1249655 | 0.86[ASN][1000 genomes] |
| rs1249656 | 0.85[AFR][1000 genomes];0.89[ASN][1000 genomes] |
| rs1249657 | 0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1249659 | 0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1249660 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1249670 | 0.96[ASN][1000 genomes] |
| rs1249675 | 0.96[ASN][1000 genomes] |
| rs12562924 | 0.89[ASN][1000 genomes] |
| rs12726507 | 0.88[ASN][1000 genomes] |
| rs12744088 | 0.88[ASN][1000 genomes] |
| rs12756704 | 0.89[ASN][1000 genomes] |
| rs1343517 | 0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1505258 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1700893 | 0.89[ASN][1000 genomes] |
| rs2135142 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2657206 | 0.89[ASN][1000 genomes] |
| rs6593571 | 0.96[ASN][1000 genomes] |
| rs6658610 | 0.89[ASN][1000 genomes] |
| rs7548993 | 0.88[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3368999 | chr1:75524762-75933220 | Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv1013952 | chr1:75716654-75936048 | Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv535004 | chr1:75716654-75936048 | ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:75790200-75797000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr1:75793800-75796800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 3 | chr1:75795000-75796000 | Weak transcription | K562 | blood |
