Variant report
| Variant | rs2083640 |
|---|---|
| Chromosome Location | chr8:19660212-19660213 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs10090638 | 0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs10092840 | 0.87[ASN][1000 genomes] |
| rs11204077 | 0.91[AFR][1000 genomes];0.83[EUR][1000 genomes] |
| rs12547934 | 0.82[EUR][1000 genomes] |
| rs13280085 | 0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs2083641 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3758061 | 0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs3855754 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs3866469 | 0.91[AFR][1000 genomes];0.85[EUR][1000 genomes] |
| rs4392917 | 0.82[EUR][1000 genomes] |
| rs4398935 | 0.82[AFR][1000 genomes] |
| rs4464983 | 0.82[EUR][1000 genomes] |
| rs58556504 | 0.81[AFR][1000 genomes];0.83[EUR][1000 genomes] |
| rs6586867 | 0.88[AFR][1000 genomes];0.82[EUR][1000 genomes] |
| rs6982084 | 0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs6986456 | 0.82[EUR][1000 genomes] |
| rs6995371 | 0.83[AFR][1000 genomes] |
| rs7012694 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7823457 | 0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs920590 | 0.83[AFR][1000 genomes] |
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 | nsv949636 | chr8:18957705-19664732 | Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv890625 | chr8:19368697-19799641 | Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
| 3 | nsv610759 | chr8:19561997-20068842 | Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
| 4 | nsv890629 | chr8:19625038-19665351 | Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2083640 | INTS10 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:19659000-19660600 | Enhancers | GM12878-XiMat | blood |
| 2 | chr8:19660000-19660600 | Bivalent Enhancer | IMR90 fetal lung fibroblasts Cell Line | lung |
