Variant report
| Variant | rs9684353 |
|---|---|
| Chromosome Location | chr4:99761483-99761484 |
| 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 | chr4:99760356..99762924-chr4:99848603..99851225,4 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000238449 | Chromatin interaction |
| ENSG00000263923 | Chromatin interaction |
| ENSG00000151247 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs10010685 | 0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10011147 | 0.87[ASN][1000 genomes] |
| rs10025191 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10032035 | 0.81[ASN][1000 genomes] |
| rs11097638 | 1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12108521 | 0.81[ASN][1000 genomes] |
| rs13135078 | 0.83[ASN][1000 genomes] |
| rs2120377 | 0.81[ASN][1000 genomes] |
| rs2165945 | 0.82[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs28705981 | 0.81[ASN][1000 genomes] |
| rs4348102 | 0.85[JPT][hapmap] |
| rs4632668 | 0.81[ASN][1000 genomes] |
| rs4699368 | 0.85[JPT][hapmap] |
| rs4699679 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4699684 | 0.82[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs4699687 | 0.85[JPT][hapmap] |
| rs5025596 | 0.81[ASN][1000 genomes] |
| rs6532770 | 0.82[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs6532771 | 0.81[ASN][1000 genomes] |
| rs6813043 | 0.81[ASN][1000 genomes] |
| rs6854056 | 0.91[AFR][1000 genomes] |
| rs7673626 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7698057 | 0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7698463 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9991845 | 0.85[ASN][1000 genomes] |
| rs9997942 | 0.81[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 | nsv1009017 | chr4:99669441-100406394 | Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 57 gene(s) | inside rSNPs | diseases |
| 2 | nsv879654 | chr4:99748988-99877402 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs9684353 | ADH5 | cis | parietal | SCAN |
| rs9684353 | ADH5 | cis | cerebellum | SCAN |
| rs9684353 | P2RX5 | trans | lymphoblastoid | seeQTL |
Chromatin state (count:0 , 50 per page) page:
| No data |
