Variant report
| Variant | rs4548508 |
|---|---|
| Chromosome Location | chr1:212880456-212880457 |
| 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 | chr1:212878919..212880536-chr1:212965416..212968390,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000203705 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs10779582 | 0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs11120005 | 0.97[ASN][1000 genomes] |
| rs12239017 | 0.81[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1580991 | 0.81[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1580992 | 0.81[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1605420 | 0.81[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs4951458 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs6540754 | 0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs6665489 | 0.81[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs6670373 | 0.97[ASN][1000 genomes] |
| rs6678961 | 0.97[ASN][1000 genomes] |
| rs6688947 | 0.86[AMR][1000 genomes];0.98[ASN][1000 genomes] |
| rs6703982 | 0.97[ASN][1000 genomes] |
| rs9651103 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1013110 | chr1:212555764-212948092 | Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 81 gene(s) | inside rSNPs | diseases |
| 2 | nsv535287 | chr1:212555764-212948092 | Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 81 gene(s) | inside rSNPs | diseases |
| 3 | nsv549148 | chr1:212876902-212962207 | Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 7 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:5)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4548508 | FLVCR1 | Cis_1M | lymphoblastoid | RTeQTL |
| rs4548508 | FLVCR1-AS1 | cis | Whole Blood | GTEx |
| rs4548508 | SNFT | Cis_1M | lymphoblastoid | RTeQTL |
| rs4548508 | FLVCR1-AS1 | cis | lung | GTEx |
| rs4548508 | LQK1 | Cis_1M | lymphoblastoid | RTeQTL |
Chromatin state (count:0 , 50 per page) page:
| No data |
