Variant report
Variant | rs73121857 |
---|---|
Chromosome Location | chr4:16304456-16304457 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | POLR2A | chr4:16304279-16304476 | MCF10A-Er-Src | breast: | n/a | n/a |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:16303049..16305421-chr4:16362564..16364897,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000248851 | TF binding region |
ENSG00000249506 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10489057 | 0.96[EUR][1000 genomes] |
rs10489065 | 0.81[ASN][1000 genomes] |
rs11721706 | 0.94[EUR][1000 genomes] |
rs11722358 | 0.96[EUR][1000 genomes] |
rs11722711 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs11735255 | 0.96[EUR][1000 genomes] |
rs11735313 | 0.93[EUR][1000 genomes] |
rs11736850 | 0.97[EUR][1000 genomes] |
rs11945394 | 0.96[EUR][1000 genomes] |
rs1472572 | 0.95[EUR][1000 genomes] |
rs16893218 | 0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs16893239 | 0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs16893257 | 0.98[EUR][1000 genomes] |
rs16893316 | 0.96[EUR][1000 genomes] |
rs16893388 | 0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs16893404 | 0.96[EUR][1000 genomes] |
rs16893419 | 0.93[EUR][1000 genomes] |
rs17563625 | 0.81[ASN][1000 genomes] |
rs1860821 | 0.96[EUR][1000 genomes] |
rs2041540 | 0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2072437 | 0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs28566142 | 0.95[EUR][1000 genomes] |
rs28650994 | 0.95[EUR][1000 genomes] |
rs28659920 | 0.96[EUR][1000 genomes] |
rs2940 | 0.96[EUR][1000 genomes] |
rs41447446 | 0.96[EUR][1000 genomes] |
rs57653099 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs57773089 | 0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs59486353 | 0.97[EUR][1000 genomes] |
rs59502099 | 0.97[EUR][1000 genomes] |
rs60788991 | 0.96[EUR][1000 genomes] |
rs6449231 | 0.96[EUR][1000 genomes] |
rs67922017 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6815561 | 0.96[EUR][1000 genomes] |
rs6830484 | 0.93[EUR][1000 genomes] |
rs6830697 | 0.94[EUR][1000 genomes] |
rs6844412 | 0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6846948 | 0.98[EUR][1000 genomes] |
rs73118069 | 0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73118071 | 0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73127513 | 0.96[EUR][1000 genomes] |
rs73127519 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73127521 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73127531 | 0.96[EUR][1000 genomes] |
rs73127547 | 0.95[EUR][1000 genomes] |
rs73127555 | 0.86[EUR][1000 genomes] |
rs73798733 | 0.96[EUR][1000 genomes] |
rs7660573 | 0.96[EUR][1000 genomes] |
rs7673330 | 0.98[EUR][1000 genomes] |
rs7689789 | 0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1004821 | chr4:16055996-16830629 | Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
2 | nsv537046 | chr4:16055996-16830629 | Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
3 | nsv537047 | chr4:16182060-16375787 | Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
4 | nsv537048 | chr4:16226406-16375787 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
5 | esv3339701 | chr4:16302754-16307052 | Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:16304200-16304800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
2 | chr4:16304200-16305000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
3 | chr4:16304400-16305000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr4:16304400-16305000 | Bivalent Enhancer | ES-UCSF4 Cell Line | embryonic stem cell |