Variant report
| Variant | rs486981 |
|---|---|
| Chromosome Location | chr2:169782149-169782150 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:169775702..169778963-chr2:169780525..169783462,3 | K562 | blood: | |
| 2 | chr2:169782114..169785281-chr2:169786393..169790786,5 | K562 | blood: | |
| 3 | chr2:169775702..169778664-chr2:169780525..169782299,2 | K562 | blood: | |
| 4 | chr2:169782114..169784208-chr2:169788090..169790755,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs475612 | 0.91[EUR][1000 genomes] |
| rs484066 | 0.91[EUR][1000 genomes] |
| rs485094 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs494874 | 0.98[EUR][1000 genomes] |
| rs502570 | 0.83[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs504979 | 0.87[EUR][1000 genomes] |
| rs508506 | 0.84[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs518598 | 0.92[EUR][1000 genomes] |
| rs537183 | 0.91[EUR][1000 genomes] |
| rs552976 | 0.99[EUR][1000 genomes] |
| rs557462 | 0.91[EUR][1000 genomes] |
| rs563694 | 0.91[EUR][1000 genomes] |
| rs566879 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs569805 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs569829 | 0.83[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs578763 | 0.84[EUR][1000 genomes] |
| rs579060 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs580670 | 0.91[EUR][1000 genomes] |
| rs853777 | 0.86[EUR][1000 genomes] |
| rs853787 | 0.96[CEU][hapmap];0.87[TSI][hapmap];0.94[EUR][1000 genomes] |
| rs853789 | 0.96[CEU][hapmap];0.94[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 | nsv583599 | chr2:169664227-169903096 | Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
| 2 | nsv459943 | chr2:169756930-169799010 | Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv583600 | chr2:169756930-169799010 | Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 4 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs486981 | AADAT | trans | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:169776800-169785000 | Weak transcription | Fetal Intestine Small | intestine |
| 2 | chr2:169782000-169784600 | Genic enhancers | Liver | Liver |
