Variant report
| Variant | rs2046735 |
|---|---|
| Chromosome Location | chr11:45565539-45565540 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:60)
- 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 |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:45560001..45561985-chr11:45565491..45567727,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000254746 | TF binding region |
rSNPs within LD-proxies of this variant (count:10)
| rs_ID | r2[population] |
|---|---|
| rs10742760 | 0.93[ASN][1000 genomes] |
| rs10769155 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes] |
| rs10838487 | 0.94[ASN][1000 genomes] |
| rs11038526 | 0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
| rs1488675 | 0.93[ASN][1000 genomes] |
| rs1565224 | 0.93[ASN][1000 genomes] |
| rs6485632 | 0.96[YRI][hapmap];0.83[AFR][1000 genomes] |
| rs7112948 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs7131249 | 0.96[YRI][hapmap];0.83[AFR][1000 genomes] |
| rs7926895 | 0.94[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1045831 | chr11:45419113-45580407 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | nsv897310 | chr11:45487041-45631953 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2046735 | HARBI1 | cis | parietal | SCAN |
| rs2046735 | MTCH2 | cis | parietal | SCAN |
| rs2046735 | SYT13 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:45554200-45570600 | Weak transcription | Brain Germinal Matrix | brain |
| 2 | chr11:45556200-45571200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 3 | chr11:45560400-45566000 | Weak transcription | Brain Anterior Caudate | brain |
| 4 | chr11:45563000-45565600 | Enhancers | Fetal Brain Male | brain |
| 5 | chr11:45565200-45566600 | Weak transcription | Fetal Brain Female | brain |
