Variant report
| Variant | rs530398 |
|---|---|
| Chromosome Location | chr11:104722390-104722391 |
| allele | A/C |
| 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 | chr11:104715402..104717976-chr11:104720645..104722717,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:54)
| rs_ID | r2[population] |
|---|---|
| rs12276274 | 1.00[EUR][1000 genomes] |
| rs12286054 | 1.00[EUR][1000 genomes] |
| rs17103106 | 1.00[EUR][1000 genomes] |
| rs17103307 | 1.00[EUR][1000 genomes] |
| rs17103313 | 1.00[EUR][1000 genomes] |
| rs2114368 | 1.00[EUR][1000 genomes] |
| rs2114369 | 1.00[EUR][1000 genomes] |
| rs2114370 | 1.00[EUR][1000 genomes] |
| rs2162342 | 1.00[EUR][1000 genomes] |
| rs34464472 | 1.00[EUR][1000 genomes] |
| rs3888096 | 1.00[EUR][1000 genomes] |
| rs4258348 | 1.00[EUR][1000 genomes] |
| rs4540818 | 1.00[EUR][1000 genomes] |
| rs477993 | 1.00[EUR][1000 genomes] |
| rs481322 | 1.00[ASN][1000 genomes] |
| rs482385 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs484438 | 1.00[EUR][1000 genomes] |
| rs499423 | 1.00[ASN][1000 genomes] |
| rs5000899 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs501149 | 1.00[ASN][1000 genomes] |
| rs508916 | 1.00[EUR][1000 genomes] |
| rs509965 | 1.00[ASN][1000 genomes] |
| rs517153 | 0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs519907 | 1.00[ASN][1000 genomes] |
| rs520458 | 1.00[CHB][hapmap] |
| rs520766 | 1.00[EUR][1000 genomes] |
| rs521107 | 1.00[EUR][1000 genomes] |
| rs521270 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs521752 | 1.00[ASN][1000 genomes] |
| rs525020 | 1.00[EUR][1000 genomes] |
| rs527522 | 1.00[EUR][1000 genomes] |
| rs531129 | 1.00[ASN][1000 genomes] |
| rs531439 | 1.00[ASN][1000 genomes] |
| rs532089 | 1.00[EUR][1000 genomes] |
| rs535297 | 1.00[ASN][1000 genomes] |
| rs541774 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs550051 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs552761 | 1.00[ASN][1000 genomes] |
| rs556062 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs556589 | 1.00[EUR][1000 genomes] |
| rs557069 | 1.00[EUR][1000 genomes] |
| rs566945 | 1.00[EUR][1000 genomes] |
| rs569468 | 1.00[ASN][1000 genomes] |
| rs579353 | 1.00[EUR][1000 genomes] |
| rs59301970 | 1.00[EUR][1000 genomes] |
| rs606399 | 1.00[EUR][1000 genomes] |
| rs608655 | 1.00[EUR][1000 genomes] |
| rs619515 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs626354 | 0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs640857 | 1.00[EUR][1000 genomes] |
| rs652377 | 1.00[EUR][1000 genomes] |
| rs655884 | 1.00[EUR][1000 genomes] |
| rs657708 | 1.00[ASN][1000 genomes] |
| rs693506 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1046098 | chr11:104207210-105003661 | Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv1054456 | chr11:104358924-104805251 | Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv531430 | chr11:104380924-105194452 | Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
| 4 | nsv826072 | chr11:104662708-104768357 | Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 5 | nsv832255 | chr11:104674918-104846961 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
| 6 | esv33953 | chr11:104709950-104737532 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 7 | esv2757474 | chr11:104719593-104798545 | Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 8 | esv2759862 | chr11:104719593-104798545 | Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:104715600-104730000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
