Variant report
| Variant | rs10800135 |
|---|---|
| Chromosome Location | chr1:165675486-165675487 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:165666145..165668955-chr1:165675306..165678474,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000215838 | TF binding region |
| ENSG00000215838 | Chromatin interaction |
| ENSG00000143149 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs10800155 | 1.00[JPT][hapmap] |
| rs12403369 | 1.00[JPT][hapmap] |
| rs1547725 | 1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs2251768 | 1.00[JPT][hapmap] |
| rs2790052 | 1.00[JPT][hapmap] |
| rs2790053 | 1.00[JPT][hapmap] |
| rs2814466 | 1.00[JPT][hapmap] |
| rs2814471 | 1.00[JPT][hapmap] |
| rs4537525 | 1.00[JPT][hapmap] |
| rs4656460 | 1.00[ASN][1000 genomes] |
| rs4656461 | 1.00[JPT][hapmap] |
| rs4657471 | 1.00[JPT][hapmap] |
| rs4657476 | 1.00[JPT][hapmap] |
| rs4657477 | 1.00[JPT][hapmap] |
| rs6426936 | 1.00[ASN][1000 genomes] |
| rs6660601 | 1.00[JPT][hapmap] |
| rs7518099 | 1.00[JPT][hapmap] |
| rs7524755 | 1.00[JPT][hapmap] |
| rs7555523 | 1.00[JPT][hapmap] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2756102 | chr1:165652342-165877342 | Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| 2 | nsv1011720 | chr1:165669589-165802516 | Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 41 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10800135 | ALDH9A1 | cis | Esophagus Muscularis | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:165673200-165677200 | Weak transcription | HepG2 | liver |
