Variant report
Variant | rs12584714 |
---|---|
Chromosome Location | chr13:49194441-49194442 |
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] |
---|---|
rs12584114 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12584341 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12584980 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12857866 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs1326698 | 1.00[ASN][1000 genomes] |
rs1575921 | 0.83[AFR][1000 genomes];1.00[ASN][1000 genomes] |
rs17071937 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs1926597 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs2148515 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs3890505 | 0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs41431749 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs41487046 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4151598 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs4151613 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs4334183 | 1.00[ASN][1000 genomes] |
rs449268 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs7139763 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs7326934 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs7338898 | 1.00[ASN][1000 genomes] |
rs9316386 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs9316387 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs9316396 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs9331984 | 1.00[CHB][hapmap] |
rs9331994 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs9332033 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs9332044 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs9332055 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs9332070 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs9595914 | 1.00[CHB][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1041275 | chr13:49045566-49242357 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
2 | nsv541769 | chr13:49045566-49242357 | Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
3 | nsv832604 | chr13:49061081-49281807 | Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
4 | nsv1049117 | chr13:49089476-49928945 | Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
5 | nsv832605 | chr13:49171305-49344970 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 6 gene(s) | inside rSNPs | diseases |
6 | esv3495983 | chr13:49181790-49222165 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
7 | esv3495984 | chr13:49181790-49222165 | Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:49193000-49196400 | ZNF genes & repeats | Fetal Intestine Small | intestine |
2 | chr13:49193400-49196200 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
3 | chr13:49194200-49197200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr13:49194400-49195000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |