Variant report
| Variant | rs12423297 |
|---|---|
| Chromosome Location | chr12:33330305-33330306 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- 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 |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:33329813..33331399-chr12:34175008..34176744,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000139133 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs11052506 | 0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs12425992 | 0.93[ASN][1000 genomes] |
| rs12427282 | 0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1445313 | 1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17555138 | 0.90[AFR][1000 genomes];0.96[ASN][1000 genomes] |
| rs4931058 | 0.96[AFR][1000 genomes];0.96[ASN][1000 genomes] |
| rs4931687 | 0.93[ASN][1000 genomes] |
| rs4931700 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs55801348 | 0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs61927363 | 0.93[ASN][1000 genomes] |
| rs61927403 | 0.84[EUR][1000 genomes] |
| rs61928811 | 0.86[ASN][1000 genomes] |
| rs61928812 | 0.86[ASN][1000 genomes] |
| rs61928813 | 0.86[ASN][1000 genomes] |
| rs61928820 | 0.93[ASN][1000 genomes] |
| rs61928821 | 0.93[ASN][1000 genomes] |
| rs9989005 | 0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv530421 | chr12:32825335-33465991 | Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| 2 | nsv558218 | chr12:33302438-33334261 | Weak transcription ZNF genes & repeats Enhancers | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 3 | nsv1037459 | chr12:33310703-33905662 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
| 4 | nsv541459 | chr12:33310703-33905662 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
| 5 | nsv1054927 | chr12:33325003-33379954 | Enhancers ZNF genes & repeats Weak transcription Active TSS | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
