Variant report
| Variant | rs6819123 |
|---|---|
| Chromosome Location | chr4:74195161-74195162 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:74123447..74125265-chr4:74193964..74195618,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000132466 | Chromatin interaction |
| ENSG00000250220 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs10755172 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11933112 | 0.90[AFR][1000 genomes] |
| rs11939220 | 0.91[AFR][1000 genomes] |
| rs11943069 | 0.90[AFR][1000 genomes] |
| rs11943708 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11944080 | 0.90[AFR][1000 genomes] |
| rs11947199 | 0.90[AFR][1000 genomes] |
| rs12108607 | 1.00[AMR][1000 genomes] |
| rs28597913 | 0.90[AFR][1000 genomes] |
| rs34686165 | 0.90[AFR][1000 genomes] |
| rs4470593 | 1.00[AMR][1000 genomes] |
| rs4694161 | 1.00[ASW][hapmap] |
| rs4694162 | 0.82[YRI][hapmap] |
| rs4694163 | 1.00[YRI][hapmap];0.91[AFR][1000 genomes] |
| rs6446919 | 1.00[AMR][1000 genomes] |
| rs6446923 | 1.00[AMR][1000 genomes] |
| rs6812309 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6822941 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6824868 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6841419 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6841614 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6847770 | 0.86[LWK][hapmap];1.00[AMR][1000 genomes] |
| rs9917908 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1000509 | chr4:73968978-74206949 | Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 34 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs6819123 | FAM118A | trans | lymphoblastoid | seeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:74183400-74203000 | Weak transcription | Liver | Liver |
| 2 | chr4:74194200-74195400 | Weak transcription | HepG2 | liver |
