Variant report
| Variant | rs11586991 |
|---|---|
| Chromosome Location | chr1:72957054-72957055 |
| allele | C/T |
| 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:25)
| rs_ID | r2[population] |
|---|---|
| rs10493499 | 0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs11588862 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs11589261 | 0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs1373914 | 0.93[ASN][1000 genomes] |
| rs1664410 | 0.93[ASN][1000 genomes] |
| rs2590943 | 0.93[ASN][1000 genomes] |
| rs4545290 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs61771778 | 0.93[ASN][1000 genomes] |
| rs61771794 | 0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs61771795 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61771796 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs61771797 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs61771798 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs61771799 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs707444 | 0.93[ASN][1000 genomes] |
| rs72684685 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs782202 | 0.84[EUR][1000 genomes] |
| rs782211 | 0.93[ASN][1000 genomes] |
| rs782214 | 0.93[ASN][1000 genomes] |
| rs782221 | 0.93[ASN][1000 genomes] |
| rs782240 | 0.93[ASN][1000 genomes] |
| rs782242 | 0.93[ASN][1000 genomes] |
| rs782245 | 0.93[ASN][1000 genomes] |
| rs782257 | 0.93[ASN][1000 genomes] |
| rs992956 | 0.93[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 | esv2422432 | chr1:72821856-73148651 | Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 2 | nsv871873 | chr1:72861847-72975877 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 3 | nsv870463 | chr1:72861847-72995398 | Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 4 | nsv871758 | chr1:72861847-72995398 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 5 | nsv830215 | chr1:72869049-73029787 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 6 | nsv546563 | chr1:72956037-73041879 | Enhancers Flanking Active TSS Weak transcription Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11586991 | RP11-292O17.1 | cis | Esophagus Muscularis | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:72956200-72961600 | Weak transcription | Fetal Lung | lung |
