Variant report
| Variant | rs499044 |
|---|---|
| Chromosome Location | chr1:91897236-91897237 |
| 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 | chr1:91868619..91871548-chr1:91895319..91897387,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000162669 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs11164839 | 0.83[CEU][hapmap];0.83[TSI][hapmap] |
| rs11165717 | 1.00[ASN][1000 genomes] |
| rs11165718 | 1.00[ASN][1000 genomes] |
| rs11576679 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11578924 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11584206 | 0.83[CEU][hapmap] |
| rs17131427 | 1.00[JPT][hapmap] |
| rs17485959 | 1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17500047 | 1.00[ASN][1000 genomes] |
| rs17558404 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2893171 | 0.81[CEU][hapmap] |
| rs540243 | 0.85[EUR][1000 genomes] |
| rs58606952 | 1.00[ASN][1000 genomes] |
| rs61798779 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61798788 | 1.00[ASN][1000 genomes] |
| rs61798793 | 1.00[ASN][1000 genomes] |
| rs61798959 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv949516 | chr1:91644418-92109261 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
| 2 | nsv1009560 | chr1:91897078-92270781 | Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs499044 | CDC7 | cis | Thyroid | GTEx |
Chromatin state (count:0 , 50 per page) page:
| No data |
