Variant report
Variant | rs2276044 |
---|---|
Chromosome Location | chr11:59814287-59814288 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10501381 | 0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes] |
rs10896999 | 0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12419784 | 0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2276043 | 1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes] |
rs4939307 | 0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs61903637 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv832173 | chr11:59788884-59940560 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
2 | nsv468579 | chr11:59814287-59975400 | Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
3 | nsv555150 | chr11:59814287-59975400 | Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
SNP | Gene | Cis/trans | Tissue | Source |
---|---|---|---|---|
rs2276044 | SLC43A1 | cis | cerebellum | SCAN |
rs2276044 | OR8H2 | cis | parietal | SCAN |
rs2276044 | MS4A4A | cis | cerebellum | SCAN |
rs2276044 | STX5 | cis | cerebellum | SCAN |
rs2276044 | OR5T3 | cis | parietal | SCAN |
rs2276044 | GTF2IRD1 | trans | parietal | SCAN |
rs2276044 | SERPING1 | cis | cerebellum | SCAN |
rs2276044 | TIMM10 | cis | cerebellum | SCAN |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:59813800-59822400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |