Variant report
| Variant | rs17146502 |
|---|---|
| Chromosome Location | chr5:119688980-119688981 |
| 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 | chr5:119688806..119691602-chr5:119693680..119696391,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:32)
| rs_ID | r2[population] |
|---|---|
| rs10068206 | 1.00[ASN][1000 genomes] |
| rs10478461 | 1.00[ASN][1000 genomes] |
| rs10478462 | 1.00[ASN][1000 genomes] |
| rs12019326 | 1.00[ASN][1000 genomes] |
| rs12719276 | 1.00[ASN][1000 genomes] |
| rs13154169 | 1.00[ASN][1000 genomes] |
| rs13179086 | 1.00[ASN][1000 genomes] |
| rs13361012 | 1.00[ASN][1000 genomes] |
| rs1432459 | 0.87[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17146484 | 0.85[AMR][1000 genomes] |
| rs17146514 | 0.85[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17146517 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17146599 | 1.00[ASN][1000 genomes] |
| rs2099297 | 1.00[ASN][1000 genomes] |
| rs28673517 | 1.00[ASN][1000 genomes] |
| rs33936956 | 1.00[ASN][1000 genomes] |
| rs56338822 | 0.85[AMR][1000 genomes] |
| rs57783585 | 1.00[ASN][1000 genomes] |
| rs6861613 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6864618 | 1.00[ASN][1000 genomes] |
| rs6868582 | 1.00[ASN][1000 genomes] |
| rs6878650 | 1.00[ASN][1000 genomes] |
| rs6883355 | 1.00[ASN][1000 genomes] |
| rs6883954 | 1.00[ASN][1000 genomes] |
| rs6898093 | 0.98[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6898472 | 0.96[AFR][1000 genomes] |
| rs71586481 | 1.00[ASN][1000 genomes] |
| rs73782016 | 0.85[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73784904 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73784905 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7702248 | 1.00[ASN][1000 genomes] |
| rs7708836 | 1.00[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 | nsv532200 | chr5:119317901-120102513 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv882786 | chr5:119615110-119714817 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 3 | nsv1018955 | chr5:119679918-119802014 | Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:119687400-119689800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
