Variant report
| Variant | rs10518497 |
|---|---|
| Chromosome Location | chr4:127479420-127479421 |
| allele | A/G |
| 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 | chr4:127478794..127481911-chr4:127483594..127487154,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000223620 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs11098886 | 1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs12651617 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs1511138 | 0.81[ASN][1000 genomes] |
| rs1511139 | 0.85[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs1511141 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs1511142 | 0.82[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs17011254 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs58806415 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs59803623 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs59819551 | 0.84[EUR][1000 genomes] |
| rs60596580 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs60752116 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs6829686 | 0.92[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs6845121 | 0.89[ASN][1000 genomes] |
| rs7687335 | 0.84[EUR][1000 genomes] |
| rs7687529 | 0.84[EUR][1000 genomes] |
| rs7687807 | 0.84[EUR][1000 genomes] |
| rs7687848 | 0.84[EUR][1000 genomes] |
| rs7691736 | 0.84[EUR][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 | chr4:127474800-127493400 | Weak transcription | K562 | blood |
