Variant report
Variant | rs55890195 |
---|---|
Chromosome Location | chr12:48565202-48565203 |
allele | A/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:48515800..48518794-chr12:48562400..48565355,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000152556 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs1004746 | 0.96[EUR][1000 genomes] |
rs1004806 | 0.96[EUR][1000 genomes] |
rs10506276 | 0.84[EUR][1000 genomes] |
rs10506277 | 0.96[EUR][1000 genomes] |
rs11830378 | 0.84[EUR][1000 genomes] |
rs17122802 | 0.84[EUR][1000 genomes] |
rs17224674 | 0.96[EUR][1000 genomes] |
rs17224828 | 0.84[EUR][1000 genomes] |
rs17225261 | 0.82[EUR][1000 genomes] |
rs17225366 | 0.82[EUR][1000 genomes] |
rs17225751 | 0.82[EUR][1000 genomes] |
rs17607800 | 0.87[AFR][1000 genomes] |
rs17823193 | 0.84[EUR][1000 genomes] |
rs2228501 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs3936179 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs4075914 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs41291959 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs41291961 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs55682541 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs55707383 | 0.87[AFR][1000 genomes];0.88[EUR][1000 genomes] |
rs55752728 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs55886138 | 0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs55894137 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs55945889 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs55953382 | 0.87[AFR][1000 genomes];0.88[EUR][1000 genomes] |
rs56049209 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs56116946 | 0.86[EUR][1000 genomes] |
rs56187356 | 1.00[EUR][1000 genomes] |
rs56205628 | 1.00[AFR][1000 genomes];0.96[EUR][1000 genomes] |
rs56288528 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs56378908 | 1.00[AFR][1000 genomes];0.96[EUR][1000 genomes] |
rs73304917 | 0.86[EUR][1000 genomes] |
rs74089155 | 1.00[EUR][1000 genomes] |
rs74089159 | 0.88[EUR][1000 genomes] |
rs74089163 | 0.88[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv2758307 | chr12:48429702-48825499 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 57 gene(s) | inside rSNPs | diseases |
2 | esv2759898 | chr12:48429702-48825499 | Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 57 gene(s) | inside rSNPs | diseases |
3 | nsv508673 | chr12:48489786-48567138 | Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
4 | nsv8971 | chr12:48536526-48758501 | Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
5 | esv34439 | chr12:48541757-48779562 | Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
6 | esv2757502 | chr12:48547128-48779562 | Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |