Variant report
Variant | rs1348511 |
---|---|
Chromosome Location | chr12:41072291-41072292 |
allele | C/T |
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] |
---|---|
rs10161139 | 0.97[ASN][1000 genomes] |
rs10748131 | 0.99[ASN][1000 genomes] |
rs10784786 | 0.99[ASN][1000 genomes] |
rs10879003 | 0.99[ASN][1000 genomes] |
rs11177604 | 0.86[ASN][1000 genomes] |
rs11177713 | 0.99[ASN][1000 genomes] |
rs11177722 | 0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11177948 | 0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1348513 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1373428 | 0.99[ASN][1000 genomes] |
rs1373429 | 0.99[ASN][1000 genomes] |
rs1444209 | 0.99[ASN][1000 genomes] |
rs1596511 | 0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs1816857 | 0.98[ASN][1000 genomes] |
rs1816858 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.89[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs1838342 | 0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2083957 | 0.98[ASN][1000 genomes] |
rs4445719 | 0.98[ASN][1000 genomes] |
rs4548695 | 0.98[ASN][1000 genomes] |
rs7309561 | 0.99[ASN][1000 genomes] |
rs7973726 | 0.99[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv899033 | chr12:40758652-41122288 | Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
2 | nsv832378 | chr12:40943111-41132305 | Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
3 | nsv427909 | chr12:41054306-41322257 | Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
4 | nsv832379 | chr12:41054440-41232749 | Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:41067000-41072600 | Weak transcription | Fetal Kidney | kidney |