Variant report
| Variant | rs11173171 |
|---|---|
| Chromosome Location | chr12:60221753-60221754 |
| allele | A/G |
| 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:27)
| rs_ID | r2[population] |
|---|---|
| rs10877352 | 0.88[ASN][1000 genomes] |
| rs11173133 | 0.80[CEU][hapmap] |
| rs11173169 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11173170 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11173189 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs11173197 | 0.88[ASN][1000 genomes] |
| rs11173199 | 0.87[ASN][1000 genomes] |
| rs11173200 | 0.86[ASN][1000 genomes] |
| rs11173201 | 0.85[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs11173202 | 0.86[ASN][1000 genomes] |
| rs12049943 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12298637 | 0.88[ASN][1000 genomes] |
| rs2365314 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2365315 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs35218918 | 0.89[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs35971116 | 0.88[EUR][1000 genomes] |
| rs4387384 | 0.88[ASN][1000 genomes] |
| rs4412789 | 0.87[ASN][1000 genomes] |
| rs4417320 | 0.88[ASN][1000 genomes] |
| rs4539371 | 0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs4623939 | 0.86[ASN][1000 genomes] |
| rs4758741 | 0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs4758846 | 0.87[ASN][1000 genomes] |
| rs56098460 | 0.86[ASN][1000 genomes] |
| rs66802005 | 0.83[AFR][1000 genomes] |
| rs66861118 | 0.86[AFR][1000 genomes] |
| rs7975905 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv869425 | chr12:59746898-60479741 | Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 22 gene(s) | inside rSNPs | diseases |
| 2 | esv3365928 | chr12:60042531-60343212 | Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 3 | nsv899134 | chr12:60141518-60263723 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv899135 | chr12:60156046-60228610 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv559102 | chr12:60164408-60221898 | Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11173171 | SLC16A7 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:60218200-60222000 | Weak transcription | NHDF-Ad | bronchial |
