Variant report
| Variant | rs7587312 |
|---|---|
| Chromosome Location | chr2:95574998-95574999 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:4)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:4 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | FOXA1 | chr2:95574900-95575191 | HepG2 | liver: | n/a | n/a |
| 2 | FOXA1 | chr2:95574872-95575249 | HepG2 | liver: | n/a | n/a |
| 3 | FOXA1 | chr2:95574743-95575175 | HepG2 | liver: | n/a | n/a |
| 4 | SIX5 | chr2:95574795-95575020 | K562 | blood: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RPS24P6 | TF binding region |
rSNPs within LD-proxies of this variant (count:7)
| rs_ID | r2[population] |
|---|---|
| rs17802697 | 1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.84[AFR][1000 genomes] |
| rs4096824 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs4443026 | 0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs67014278 | 0.84[AFR][1000 genomes];0.81[EUR][1000 genomes] |
| rs6709052 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6721123 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6747563 | 1.00[ASW][hapmap];0.89[CEU][hapmap];0.85[LWK][hapmap];0.83[TSI][hapmap];0.84[AFR][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 | nsv1000661 | chr2:95327875-95739468 | Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
| 2 | nsv1005016 | chr2:95327875-95914467 | Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 43 gene(s) | inside rSNPs | diseases |
| 3 | esv2759075 | chr2:95358799-95620108 | Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7587312 | CYP4F32P | cis | Esophagus Mucosa | GTEx |
| rs7587312 | ZNF514 | Cis_1M | lymphoblastoid | RTeQTL |
| rs7587312 | ZNF514 | cis | Temporal Cortex | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:95574600-95575000 | Active TSS | Liver | Liver |
