Variant report
Variant | rs17494917 |
---|---|
Chromosome Location | chr2:50250758-50250759 |
allele | A/G |
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:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:50245424..50247273-chr2:50250002..50252375,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000179915 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10172768 | 0.90[CEU][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs11891637 | 0.80[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs11893341 | 0.80[EUR][1000 genomes] |
rs11897683 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs12469906 | 1.00[CHB][hapmap];1.00[CHD][hapmap] |
rs17039606 | 0.80[EUR][1000 genomes] |
rs17039676 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs17442274 | 1.00[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes] |
rs17492567 | 0.90[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs17493894 | 1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs6730936 | 1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.87[ASN][1000 genomes] |
rs6745029 | 1.00[CEU][hapmap];1.00[CHB][hapmap] |
rs7568888 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7571903 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7586095 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7604754 | 0.90[GIH][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv3388948 | chr2:50092667-50602681 | Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 4 gene(s) | inside rSNPs | diseases |
2 | esv3399511 | chr2:50092687-50602651 | Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 4 gene(s) | inside rSNPs | diseases |
3 | nsv934303 | chr2:50145598-50412189 | Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
4 | nsv581837 | chr2:50230334-50268616 | Weak transcription Flanking Active TSS Enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
5 | nsv1011144 | chr2:50231111-50270096 | Enhancers Flanking Active TSS Weak transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
6 | nsv915588 | chr2:50235306-50268306 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
7 | nsv431002 | chr2:50243349-50259749 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
8 | nsv1004550 | chr2:50250335-50274067 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
9 | nsv581838 | chr2:50250758-50274774 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:50250000-50250800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
2 | chr2:50250400-50252200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |