Variant report
| Variant | rs4902330 |
|---|---|
| Chromosome Location | chr14:65370231-65370232 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000125954 | Chromatin interaction |
| ENSG00000258289 | Chromatin interaction |
| ENSG00000252497 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs10136659 | 1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs10138506 | 0.90[AMR][1000 genomes] |
| rs10138545 | 1.00[ASN][1000 genomes] |
| rs11158561 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs1127968 | 0.90[AMR][1000 genomes] |
| rs11845923 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17880758 | 0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3949938 | 0.90[AMR][1000 genomes] |
| rs4899147 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs4899149 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs4902328 | 1.00[ASN][1000 genomes] |
| rs4902342 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7159870 | 0.87[AMR][1000 genomes] |
| rs74056628 | 1.00[ASN][1000 genomes] |
| rs9323457 | 0.84[AMR][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 | esv3693169 | chr14:65344400-65381068 | Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
| 2 | nsv1311 | chr14:65352722-65379802 | Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4902330 | CHURC1 | cis | multi-tissue | Pritchard |
| rs4902330 | CHURC1 | Cis_1M | lymphoblastoid | RTeQTL |
Chromatin state (count:0 , 50 per page) page:
| No data |
