Variant report
Variant | rs12165392 |
---|---|
Chromosome Location | chr22:32764881-32764882 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:5 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | 22:31829733-31836635..22:32764253-32784733 | K562 | blood: | |
2 | 22:31936958-31958600..22:32764253-32784733 | K562 | blood: | |
3 | 22:32529813-32538538..22:32764253-32784733 | H1-hESC | embryonic stem cell: | embryo |
4 | 22:32513817-32522138..22:32764253-32784733 | H1-hESC | embryonic stem cell: | embryo |
5 | 22:32360288-32405313..22:32764253-32784733 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000232707 | Chromatin interaction |
ENSG00000239674 | Chromatin interaction |
ENSG00000214093 | Chromatin interaction |
ENSG00000240647 | Chromatin interaction |
ENSG00000184708 | Chromatin interaction |
ENSG00000230866 | Chromatin interaction |
ENSG00000234479 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10427814 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11913228 | 0.82[JPT][hapmap] |
rs11913841 | 0.82[JPT][hapmap] |
rs2049949 | 1.00[ASN][1000 genomes] |
rs58316160 | 0.86[ASN][1000 genomes] |
rs5994560 | 0.85[JPT][hapmap];0.81[ASN][1000 genomes] |
rs713906 | 0.85[JPT][hapmap];0.81[ASN][1000 genomes] |
rs742097 | 0.82[JPT][hapmap] |
rs9609518 | 0.82[JPT][hapmap] |
rs9609549 | 1.00[JPT][hapmap] |
rs9619260 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs9621427 | 0.82[JPT][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv2830423 | chr22:32477718-32767825 | Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 43 gene(s) | inside rSNPs | diseases |
2 | esv2422247 | chr22:32486448-32788258 | Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 44 gene(s) | inside rSNPs | diseases |
3 | nsv459874 | chr22:32574274-32866934 | Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
4 | nsv588895 | chr22:32574274-32866934 | Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
5 | nsv1064737 | chr22:32603912-32829725 | Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 38 gene(s) | inside rSNPs | diseases |
6 | esv1817721 | chr22:32758417-32770340 | Enhancers Active TSS Weak transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:32755800-32781600 | Weak transcription | Ovary | ovary |
2 | chr22:32762800-32788200 | Weak transcription | Psoas Muscle | Psoas |