Variant report
| Variant | rs10913625 |
|---|---|
| Chromosome Location | chr1:171732378-171732379 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:171729687..171733295-chr1:171747531..171751881,5 | K562 | blood: | |
| 2 | chr1:171722184..171727474-chr1:171729363..171734018,7 | K562 | blood: | |
| 3 | chr1:171710259..171712623-chr1:171731958..171733682,2 | K562 | blood: | |
| 4 | chr1:171723775..171729031-chr1:171729363..171735304,8 | K562 | blood: | |
| 5 | chr1:171710254..171714548-chr1:171728803..171733052,4 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000253060 | TF binding region |
| ENSG00000117533 | Chromatin interaction |
| ENSG00000010165 | Chromatin interaction |
| ENSG00000271459 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:9)
| rs_ID | r2[population] |
|---|---|
| rs10489249 | 0.85[YRI][hapmap] |
| rs10798634 | 0.81[YRI][hapmap] |
| rs10913582 | 0.85[YRI][hapmap] |
| rs11577745 | 0.85[YRI][hapmap] |
| rs12032340 | 0.93[ASW][hapmap];0.81[YRI][hapmap] |
| rs17649050 | 0.84[YRI][hapmap] |
| rs17649250 | 0.85[YRI][hapmap] |
| rs6679027 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6688823 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[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 | esv3512995 | chr1:171329123-171994470 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
| 2 | esv3512997 | chr1:171329123-171994470 | Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:5)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10913625 | METTL13 | cis | parietal | SCAN |
| rs10913625 | PRDX6 | cis | parietal | SCAN |
| rs10913625 | VAMP4 | cis | lymphoblastoid | seeQTL |
| rs10913625 | DNM3 | cis | cerebellum | SCAN |
| rs10913625 | DCAF6 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:171732200-171734200 | Enhancers | K562 | blood |
