Variant report
| Variant | rs10444685 |
|---|---|
| Chromosome Location | chr14:79962395-79962396 |
| allele | A/G |
| 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 | chr14:79962362..79964375-chr14:79965844..79968447,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs10444741 | 0.81[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap] |
| rs11625620 | 1.00[ASN][1000 genomes] |
| rs11625769 | 1.00[ASN][1000 genomes] |
| rs12147236 | 1.00[ASN][1000 genomes] |
| rs12147614 | 1.00[ASN][1000 genomes] |
| rs17836166 | 1.00[ASN][1000 genomes] |
| rs2009367 | 1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61519036 | 1.00[ASN][1000 genomes] |
| rs61993116 | 1.00[ASN][1000 genomes] |
| rs61993137 | 1.00[ASN][1000 genomes] |
| rs61993138 | 1.00[ASN][1000 genomes] |
| rs61993139 | 1.00[ASN][1000 genomes] |
| rs61993140 | 1.00[ASN][1000 genomes] |
| rs61993141 | 1.00[ASN][1000 genomes] |
| rs61993159 | 1.00[ASN][1000 genomes] |
| rs61995163 | 1.00[ASN][1000 genomes] |
| rs61995166 | 1.00[ASN][1000 genomes] |
| rs61995177 | 1.00[ASN][1000 genomes] |
| rs61995185 | 1.00[ASN][1000 genomes] |
| rs7145128 | 0.96[CEU][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes] |
| rs7150181 | 0.82[CEU][hapmap] |
| rs8005235 | 0.88[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs8021408 | 0.81[ASW][hapmap];0.92[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap] |
| rs8022132 | 1.00[CEU][hapmap] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv902110 | chr14:79624492-79998294 | Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv1045241 | chr14:79885361-80734201 | Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
| 3 | nsv1039622 | chr14:79908702-80266601 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv902112 | chr14:79939393-80050771 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10444685 | C14orf179 | cis | parietal | SCAN |
| rs10444685 | LTBP2 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:79961800-79962800 | Weak transcription | Brain Germinal Matrix | brain |
| 2 | chr14:79962200-79963800 | Enhancers | HSMM | muscle |
