Variant report
| Variant | rs1029598 |
|---|---|
| Chromosome Location | chr7:21781807-21781808 |
| 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 | chr7:21781176..21783466-chr7:21790415..21793286,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs1029599 | 0.94[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs17277521 | 0.94[CEU][hapmap] |
| rs17356140 | 0.94[CEU][hapmap] |
| rs2906683 | 0.80[CEU][hapmap] |
| rs2906684 | 0.83[CHB][hapmap] |
| rs2906685 | 0.84[CHB][hapmap] |
| rs2906687 | 0.80[ASW][hapmap];0.89[CHB][hapmap];0.83[YRI][hapmap] |
| rs2965364 | 0.84[CHB][hapmap] |
| rs6942457 | 0.86[CEU][hapmap] |
| rs933354 | 0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs9639395 | 0.84[CHB][hapmap] |
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 | nsv1018133 | chr7:21740118-22055283 | Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
| 2 | nsv1016063 | chr7:21740433-21808410 | Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1029598 | SP8 | cis | parietal | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
