Variant report
Variant | rs1544298 |
---|---|
Chromosome Location | chr1:216264294-216264295 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | MAFK | chr1:216264124-216264366 | HepG2 | liver: | n/a | chr1:216264212-216264232 chr1:216264214-216264230 chr1:216264215-216264229 chr1:216264198-216264209 chr1:216264212-216264223 |
2 | MAFK | chr1:216264135-216264361 | HepG2 | liver: | n/a | chr1:216264212-216264232 chr1:216264214-216264230 chr1:216264215-216264229 chr1:216264198-216264209 chr1:216264212-216264223 |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
USH2A | TF binding region |
rs_ID | r2[population] |
---|---|
rs10495015 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10779664 | 0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs12042718 | 0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12119670 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes] |
rs12123638 | 0.82[JPT][hapmap] |
rs12751218 | 0.82[JPT][hapmap] |
rs12759921 | 0.89[CHB][hapmap];0.80[ASN][1000 genomes] |
rs1544299 | 1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes] |
rs2068721 | 0.89[CHB][hapmap] |
rs2147477 | 0.89[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap] |
rs301734 | 0.81[CEU][hapmap];0.81[TSI][hapmap] |
rs388485 | 0.81[CEU][hapmap] |
rs442028 | 0.82[JPT][hapmap] |
rs4971263 | 0.82[JPT][hapmap] |
rs616523 | 0.81[CEU][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1006504 | chr1:215890460-216642124 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
2 | nsv535288 | chr1:215890460-216642124 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
3 | nsv428599 | chr1:216086224-216267211 | Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
4 | nsv873172 | chr1:216144827-216281673 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
5 | nsv873176 | chr1:216249570-216363137 | Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:216264000-216264600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |