Variant report
Variant | rs342689 |
---|---|
Chromosome Location | chr13:92362222-92362223 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:4 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr13:92360673..92364481-chr13:92372533..92375475,4 | K562 | blood: | |
2 | chr13:92011441..92013095-chr13:92360368..92362674,2 | K562 | blood: | |
3 | chr13:92003420..92005898-chr13:92360065..92363004,2 | K562 | blood: | |
4 | chr13:92360463..92365110-chr13:92381034..92383845,4 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000215417 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs163931 | 1.00[JPT][hapmap];0.89[YRI][hapmap] |
rs189336 | 1.00[JPT][hapmap] |
rs193182 | 1.00[ASN][1000 genomes] |
rs342690 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs342691 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs412598 | 1.00[JPT][hapmap];0.89[YRI][hapmap] |
rs440323 | 1.00[JPT][hapmap];0.89[YRI][hapmap] |
rs456860 | 0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs459963 | 1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs464989 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs507692 | 1.00[ASN][1000 genomes] |
rs548332 | 1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs549238 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs566617 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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 | nsv1042947 | chr13:91571040-92416897 | Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 1946 gene(s) | inside rSNPs | diseases |
2 | nsv541871 | chr13:91571040-92416897 | Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 1946 gene(s) | inside rSNPs | diseases |
3 | nsv1049382 | chr13:92024240-92521180 | Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
4 | nsv541873 | chr13:92024240-92521180 | Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
5 | esv2753383 | chr13:92226599-92462699 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
6 | nsv529268 | chr13:92267310-92531263 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
7 | esv3441334 | chr13:92358169-92369953 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:92360600-92362400 | Enhancers | Rectal Mucosa Donor 31 | rectum |
2 | chr13:92362000-92362400 | Enhancers | Sigmoid Colon | Sigmoid Colon |