Variant report
| Variant | rs6693185 |
|---|---|
| Chromosome Location | chr1:166978035-166978036 |
| 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 | chr1:166970676..166973500-chr1:166976279..166979134,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs1410247 | 0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2025893 | 0.92[ASN][1000 genomes] |
| rs2225153 | 0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs393025 | 0.91[CHB][hapmap];0.91[JPT][hapmap] |
| rs402031 | 0.87[ASN][1000 genomes] |
| rs4657621 | 0.92[ASN][1000 genomes] |
| rs6427051 | 1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap] |
| rs6661553 | 1.00[CHB][hapmap];0.95[JPT][hapmap] |
| rs6667210 | 1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes] |
| rs6694465 | 1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes] |
| rs6698931 | 1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.92[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 | nsv1004148 | chr1:166951869-167016311 | Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | esv2750815 | chr1:166953866-167180342 | Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 22 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs6693185 | MAEL | cis | parietal | SCAN |
| rs6693185 | TMCO1 | cis | parietal | SCAN |
| rs6693185 | MAEL | cis | lymphoblastoid | seeQTL |
Chromatin state (count:0 , 50 per page) page:
| No data |
