Variant report
| Variant | rs10484291 |
|---|---|
| Chromosome Location | chr6:118457579-118457580 |
| allele | A/C |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:118453596..118455211-chr6:118457163..118459104,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs11970553 | 0.91[CHD][hapmap];0.84[ASN][1000 genomes] |
| rs12662262 | 0.83[JPT][hapmap] |
| rs1334830 | 0.85[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs17079707 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs17079741 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs2152076 | 0.83[JPT][hapmap] |
| rs2501518 | 1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs4565341 | 0.81[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs5005997 | 0.82[JPT][hapmap] |
| rs56049025 | 0.81[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs58772909 | 0.85[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs59289305 | 0.86[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs59432410 | 0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs62423663 | 0.83[EUR][1000 genomes] |
| rs62423665 | 0.85[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs62423668 | 0.83[EUR][1000 genomes] |
| rs62423670 | 0.84[ASN][1000 genomes] |
| rs62423671 | 0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6939605 | 0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs6940272 | 0.83[JPT][hapmap] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv530526 | chr6:118027339-118718476 | Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 2 | nsv428153 | chr6:118430517-118586974 | Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv1030089 | chr6:118436482-118604516 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv538427 | chr6:118436482-118604516 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10484291 | TSPYL1 | cis | parietal | SCAN |
| rs10484291 | ROS1 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:118454000-118460200 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 2 | chr6:118457200-118466200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
