Variant report
| Variant | rs2803241 |
|---|---|
| Chromosome Location | chr1:63368318-63368319 |
| allele | A/C |
| 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:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | IRF1 | chr1:63368100-63368361 | K562 | blood: | n/a | chr1:63368244-63368258 chr1:63368242-63368256 chr1:63368125-63368138 chr1:63368247-63368257 chr1:63368244-63368261 chr1:63368241-63368255 chr1:63368244-63368258 chr1:63368126-63368138 chr1:63368243-63368256 chr1:63368244-63368256 chr1:63368249-63368262 chr1:63368243-63368257 chr1:63368245-63368256 chr1:63368244-63368257 chr1:63368243-63368256 chr1:63368237-63368257 chr1:63368243-63368256 chr1:63368244-63368256 chr1:63368246-63368257 chr1:63368243-63368263 chr1:63368245-63368259 |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:63367185..63369129-chr1:63369906..63371778,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000237163 | TF binding region |
| ENSG00000237163 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs10889388 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs10889389 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs10889390 | 1.00[ASN][1000 genomes] |
| rs10889391 | 1.00[ASN][1000 genomes] |
| rs11208059 | 1.00[ASN][1000 genomes] |
| rs12042640 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs12047682 | 1.00[ASN][1000 genomes] |
| rs12569334 | 1.00[ASN][1000 genomes] |
| rs12751505 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs17123828 | 0.88[MEX][hapmap] |
| rs17316337 | 0.89[CEU][hapmap] |
| rs2780878 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs2803239 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2803242 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs2803243 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 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 | nsv830015 | chr1:63261143-63455296 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2803241 | KANK4 | cis | cerebellum | SCAN |
| rs2803241 | CACHD1 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:63366800-63370600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
