Variant report
| Variant | rs1385509 |
|---|---|
| Chromosome Location | chr8:120049354-120049355 |
| 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 | chr8:120048384..120050109-chr8:120053957..120055486,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs11573823 | 1.00[CHB][hapmap];0.83[YRI][hapmap] |
| rs11573846 | 1.00[CHB][hapmap] |
| rs11573847 | 1.00[CHB][hapmap];0.83[YRI][hapmap] |
| rs11573878 | 1.00[CHB][hapmap];0.82[YRI][hapmap] |
| rs11573884 | 1.00[CHB][hapmap];0.82[YRI][hapmap] |
| rs11573888 | 1.00[CHB][hapmap];0.82[YRI][hapmap] |
| rs11573938 | 0.82[YRI][hapmap] |
| rs13270766 | 1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes] |
| rs13270860 | 1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes] |
| rs13276474 | 1.00[CHB][hapmap] |
| rs13282510 | 1.00[CHB][hapmap] |
| rs1385502 | 1.00[CHB][hapmap];0.82[YRI][hapmap] |
| rs1385506 | 1.00[ASN][1000 genomes] |
| rs1485289 | 0.82[YRI][hapmap] |
| rs1564858 | 1.00[CHB][hapmap];0.82[YRI][hapmap] |
| rs17179200 | 1.00[CHB][hapmap] |
| rs2073618 | 0.83[YRI][hapmap] |
| rs35878777 | 0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs35968003 | 1.00[ASN][1000 genomes] |
| rs4460404 | 1.00[CHB][hapmap] |
| rs4537331 | 1.00[CHB][hapmap] |
| rs6469783 | 1.00[CHB][hapmap] |
| rs6995365 | 1.00[CHB][hapmap];0.83[YRI][hapmap] |
| rs71532413 | 1.00[ASN][1000 genomes] |
| rs7464496 | 0.82[YRI][hapmap] |
| rs7828837 | 1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes] |
| rs7837001 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs7845642 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv868916 | chr8:119911943-120762250 | Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 2 | esv2758169 | chr8:119943309-120275750 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
| 3 | esv2759639 | chr8:119943309-120275750 | Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
| 4 | nsv437631 | chr8:120015963-120051656 | Enhancers Weak transcription | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:120048200-120049400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
