Variant report
| Variant | rs62321715 |
|---|---|
| Chromosome Location | chr4:127493509-127493510 |
| allele | C/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 | chr4:127493395..127495080-chr4:127497271..127498825,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs11727424 | 1.00[ASN][1000 genomes] |
| rs1355111 | 1.00[ASN][1000 genomes] |
| rs167506 | 1.00[ASN][1000 genomes] |
| rs313103 | 1.00[ASN][1000 genomes] |
| rs313130 | 1.00[ASN][1000 genomes] |
| rs313131 | 1.00[ASN][1000 genomes] |
| rs313134 | 1.00[ASN][1000 genomes] |
| rs313137 | 1.00[ASN][1000 genomes] |
| rs313138 | 1.00[ASN][1000 genomes] |
| rs432446 | 1.00[ASN][1000 genomes] |
| rs4444841 | 1.00[ASN][1000 genomes] |
| rs4834125 | 1.00[ASN][1000 genomes] |
| rs60133914 | 1.00[ASN][1000 genomes] |
| rs62321712 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62321713 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62321714 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62321722 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62321723 | 0.82[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62322676 | 0.82[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62322678 | 1.00[ASN][1000 genomes] |
| rs62322679 | 1.00[ASN][1000 genomes] |
| rs62322680 | 1.00[ASN][1000 genomes] |
| rs62322683 | 1.00[ASN][1000 genomes] |
| rs62322684 | 1.00[ASN][1000 genomes] |
| rs62324762 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1012833 | chr4:127468474-127760933 | Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv537242 | chr4:127468474-127760933 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv524850 | chr4:127470903-127768849 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:127493400-127493600 | Enhancers | Brain Substantia Nigra | brain |
| 2 | chr4:127493400-127493800 | Enhancers | K562 | blood |
