Variant report
Variant | rs1638449 |
---|---|
Chromosome Location | chr17:44995121-44995122 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr17:44994980-44995130 | GM12873 | blood: | n/a | n/a |
2 | TBP | chr17:44995090-44995130 | H1-hESC | embryonic stem cell: | n/a | n/a |
3 | CTCF | chr17:44995000-44995150 | AG04450 | lung: | n/a | n/a |
4 | ZNF143 | chr17:44995062-44995131 | H1-hESC | embryonic stem cell: | n/a | n/a |
5 | CTCF | chr17:44995000-44995150 | BE2_C | brain: | n/a | n/a |
6 | CTCF | chr17:44995000-44995150 | HEK293 | kidney: | n/a | n/a |
No data |
(count:3 , 50 per page) page:
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
RNU6ATAC3P | TF binding region |
ENSG00000262633 | Chromatin interaction |
ENSG00000261886 | Chromatin interaction |
ENSG00000108433 | Chromatin interaction |
ENSG00000262031 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs11079743 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs1625900 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs1634270 | 1.00[EUR][1000 genomes] |
rs1638447 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs1662595 | 0.90[LWK][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs1662598 | 0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs16941147 | 1.00[EUR][1000 genomes] |
rs183199 | 0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes] |
rs197921 | 1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs197933 | 1.00[EUR][1000 genomes] |
rs197934 | 1.00[EUR][1000 genomes] |
rs197940 | 1.00[EUR][1000 genomes] |
rs2018281 | 1.00[EUR][1000 genomes] |
rs2108922 | 0.96[AFR][1000 genomes];1.00[EUR][1000 genomes] |
rs28377288 | 1.00[EUR][1000 genomes] |
rs28740955 | 1.00[EUR][1000 genomes] |
rs3851783 | 0.96[AFR][1000 genomes];1.00[EUR][1000 genomes] |
rs4083002 | 1.00[EUR][1000 genomes] |
rs4968289 | 1.00[EUR][1000 genomes] |
rs60458827 | 1.00[EUR][1000 genomes] |
rs7212013 | 1.00[EUR][1000 genomes] |
rs7221149 | 1.00[EUR][1000 genomes] |
rs73316337 | 1.00[EUR][1000 genomes] |
rs73987013 | 1.00[EUR][1000 genomes] |
rs73987030 | 1.00[EUR][1000 genomes] |
rs8064340 | 1.00[EUR][1000 genomes] |
rs8064568 | 1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes] |
rs8071980 | 1.00[EUR][1000 genomes] |
rs8078556 | 0.83[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs9893406 | 0.90[AFR][1000 genomes];1.00[EUR][1000 genomes] |
rs9893495 | 1.00[EUR][1000 genomes] |
rs9900809 | 1.00[EUR][1000 genomes] |
rs9910543 | 1.00[EUR][1000 genomes] |
rs9915693 | 0.83[YRI][hapmap];1.00[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv3492820 | chr17:44174959-45161556 | Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 73 gene(s) | inside rSNPs | diseases |
2 | esv3492821 | chr17:44174959-45161556 | Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 73 gene(s) | inside rSNPs | diseases |
3 | esv3502492 | chr17:44305975-45169159 | Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 54 gene(s) | inside rSNPs | diseases |
4 | esv3502493 | chr17:44305975-45169159 | Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 54 gene(s) | inside rSNPs | diseases |
5 | nsv531823 | chr17:44485771-45067769 | Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
6 | nsv908562 | chr17:44828931-45102413 | Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
7 | nsv949295 | chr17:44836653-45080757 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 24 gene(s) | inside rSNPs | diseases |
8 | nsv428672 | chr17:44872446-45023425 | Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
9 | nsv1067211 | chr17:44979111-45057620 | Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 14 gene(s) | inside rSNPs | diseases |
10 | nsv543378 | chr17:44979111-45057620 | Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 14 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:44988200-44999800 | Weak transcription | Right Ventricle | heart |
2 | chr17:44988400-45000000 | Weak transcription | Pancreas | Pancrea |
3 | chr17:44991200-44999800 | Weak transcription | Brain Hippocampus Middle | brain |
4 | chr17:44991600-44999600 | Weak transcription | Brain Anterior Caudate | brain |
5 | chr17:44994200-44999800 | Weak transcription | NHLF | lung |
6 | chr17:44995000-44995200 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |