Variant report
| Variant | rs35102250 |
|---|---|
| Chromosome Location | chr1:93889568-93889569 |
| allele | C/G |
| 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:21)
| rs_ID | r2[population] |
|---|---|
| rs10874778 | 0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs10874786 | 0.81[AFR][1000 genomes];0.88[ASN][1000 genomes] |
| rs10874790 | 0.85[ASN][1000 genomes] |
| rs11164924 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs11164936 | 0.81[ASN][1000 genomes] |
| rs11164938 | 0.81[AFR][1000 genomes];0.90[ASN][1000 genomes] |
| rs12042552 | 0.81[AFR][1000 genomes];0.84[ASN][1000 genomes] |
| rs12123339 | 0.81[ASN][1000 genomes] |
| rs12124771 | 0.81[AFR][1000 genomes] |
| rs12135266 | 0.81[AFR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12138486 | 0.80[ASN][1000 genomes] |
| rs12742850 | 0.81[AFR][1000 genomes];0.90[ASN][1000 genomes] |
| rs1812668 | 0.81[AFR][1000 genomes];0.90[ASN][1000 genomes] |
| rs2391256 | 0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs2391271 | 0.86[ASN][1000 genomes] |
| rs4847245 | 0.84[ASN][1000 genomes] |
| rs4847428 | 0.90[ASN][1000 genomes] |
| rs4847429 | 0.84[ASN][1000 genomes] |
| rs7546702 | 0.88[ASN][1000 genomes] |
| rs7551016 | 0.88[ASN][1000 genomes] |
| rs8179368 | 0.82[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 | nsv871640 | chr1:93807122-93953469 | Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | diseases |
| 2 | esv3375834 | chr1:93872980-93904647 | ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer | Chromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:7)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs35102250 | TMED5 | Cis_1M | lymphoblastoid | RTeQTL |
| rs35102250 | DR1 | Cis_1M | lymphoblastoid | RTeQTL |
| rs35102250 | RP4-717I23.3 | cis | Artery Tibial | GTEx |
| rs35102250 | RP4-717I23.3 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs35102250 | RP4-717I23.3 | cis | Adipose Subcutaneous | GTEx |
| rs35102250 | RP4-717I23.3 | cis | Nerve Tibial | GTEx |
| rs35102250 | RP4-717I23.3 | cis | lung | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:93881400-93891800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr1:93889400-93889600 | ZNF genes & repeats | Fetal Muscle Trunk | muscle |
