Variant report
| Variant | rs12448344 |
|---|---|
| Chromosome Location | chr16:80595913-80595914 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr16:80589493..80592966-chr16:80593921..80596964,3 | MCF-7 | breast: | |
| 2 | chr16:80595839..80600096-chr16:80600224..80603898,5 | MCF-7 | breast: | |
| 3 | chr16:80576616..80579351-chr16:80593938..80597383,3 | MCF-7 | breast: | |
| 4 | chr16:80594243..80596595-chr16:80599585..80602236,2 | K562 | blood: | |
| 5 | chr16:80593676..80596340-chr16:80598060..80599713,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000168589 | Chromatin interaction |
| ENSG00000260737 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:12)
| rs_ID | r2[population] |
|---|---|
| rs12443848 | 1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
| rs12444563 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
| rs12600027 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
| rs12920691 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs12933306 | 0.91[EUR][1000 genomes] |
| rs13335321 | 0.93[ASN][1000 genomes] |
| rs4316772 | 0.96[ASN][1000 genomes] |
| rs4392092 | 0.82[JPT][hapmap] |
| rs4534859 | 0.89[CHB][hapmap];0.86[CHD][hapmap] |
| rs966670 | 0.93[ASN][1000 genomes] |
| rs9935465 | 0.89[CHB][hapmap];0.82[ASN][1000 genomes] |
| rs9940164 | 0.93[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 | nsv907001 | chr16:80405292-80620611 | Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 2 | nsv833300 | chr16:80475066-80601036 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 3 | nsv1060621 | chr16:80532848-80980616 | Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
| 4 | nsv542989 | chr16:80532848-80980616 | Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12448344 | RAB31 | trans | lymphoblastoid | seeQTL |
Chromatin state (count:0 , 50 per page) page:
| No data |
