Variant report
Variant | rs6509547 |
---|---|
Chromosome Location | chr19:52021025-52021026 |
allele | A/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
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No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:52016872..52019391-chr19:52020928..52022569,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000268777 | TF binding region |
rs_ID | r2[population] |
---|---|
rs10221457 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10405214 | 0.81[CEU][hapmap] |
rs10407110 | 0.81[CHB][hapmap];0.86[JPT][hapmap] |
rs10853836 | 0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes] |
rs1840827 | 1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1973096 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2054191 | 0.81[CHB][hapmap];0.86[JPT][hapmap] |
rs2168643 | 0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes] |
rs2864105 | 0.81[ASN][1000 genomes] |
rs2902665 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4801873 | 0.94[JPT][hapmap] |
rs4801874 | 0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes] |
rs6509548 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6509551 | 0.81[CHB][hapmap];0.82[JPT][hapmap] |
rs7250538 | 0.81[CHB][hapmap];0.86[JPT][hapmap] |
rs8100580 | 0.81[CHB][hapmap];0.82[JPT][hapmap] |
rs8101241 | 1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs8101465 | 1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1066308 | chr19:51680133-52103974 | Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 71 gene(s) | inside rSNPs | diseases |
2 | nsv544049 | chr19:51680133-52103974 | Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 71 gene(s) | inside rSNPs | diseases |
3 | nsv544051 | chr19:51944903-52147459 | Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
4 | esv2758504 | chr19:51991896-52266700 | Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 542 gene(s) | inside rSNPs | diseases |
5 | esv2758767 | chr19:51991896-52604625 | Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 578 gene(s) | inside rSNPs | diseases |
6 | nsv469584 | chr19:52001381-52151821 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 25 gene(s) | inside rSNPs | diseases |
7 | nsv482654 | chr19:52001381-52151821 | Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 25 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:52018400-52021400 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
2 | chr19:52018600-52021200 | Weak transcription | Primary B cells from peripheral blood | blood |
3 | chr19:52020200-52023000 | Weak transcription | Placenta | Placenta |