Variant report
| Variant | rs12463765 |
|---|---|
| Chromosome Location | chr2:113812869-113812870 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | KAP1 | chr2:113812784-113813154 | K562 | blood: | n/a | n/a |
| 2 | CBX3 | chr2:113812793-113813116 | K562 | blood: | n/a | n/a |
| 3 | KAP1 | chr2:113812807-113813166 | U2OS | brain: | n/a | n/a |
| 4 | SETDB1 | chr2:113812711-113813236 | U2OS | brain: | n/a | n/a |
| 5 | CBX3 | chr2:113812744-113813121 | K562 | blood: | n/a | n/a |
| 6 | KAP1 | chr2:113812610-113813200 | HEK293 | kidney: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:113809110..113811211-chr2:113812737..113815572,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| IL36RN | TF binding region |
| IL36B | TF binding region |
| ENSG00000136696 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:12)
| rs_ID | r2[population] |
|---|---|
| rs12466269 | 0.80[AMR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1562302 | 0.81[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2515393 | 0.92[ASN][1000 genomes] |
| rs28928312 | 1.00[ASN][1000 genomes] |
| rs28929172 | 0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs34491153 | 0.80[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs34514967 | 0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4603767 | 0.81[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4848313 | 0.93[ASN][1000 genomes] |
| rs4849145 | 0.92[ASN][1000 genomes] |
| rs62157693 | 0.81[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62157694 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv532471 | chr2:113682449-113862981 | ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
| 2 | nsv997348 | chr2:113688093-113986508 | Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| 3 | nsv1007254 | chr2:113726982-113887782 | Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
| 4 | nsv535894 | chr2:113726982-113887782 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
| 5 | nsv874889 | chr2:113796666-113814670 | Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 6 | nsv2881 | chr2:113800805-113846597 | Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:113809400-113813800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr2:113811200-113814400 | ZNF genes & repeats | Fetal Intestine Small | intestine |
