Variant report
Variant | rs1160648 |
---|---|
Chromosome Location | chr2:56453588-56453589 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs1119821 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1160647 | 0.91[CHB][hapmap];0.82[CHD][hapmap];0.87[ASN][1000 genomes] |
rs12612590 | 0.81[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs17268667 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1861772 | 1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs1990757 | 0.86[CHB][hapmap] |
rs2193473 | 0.86[CHB][hapmap] |
rs2193474 | 0.86[CHB][hapmap];0.80[ASN][1000 genomes] |
rs2193475 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2216323 | 0.86[CHB][hapmap];0.80[ASN][1000 genomes] |
rs2216324 | 1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2869527 | 0.86[CHB][hapmap] |
rs2869528 | 0.86[CHB][hapmap];0.80[ASN][1000 genomes] |
rs34377123 | 0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4672100 | 0.80[ASN][1000 genomes] |
rs56265195 | 0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs6545558 | 0.82[CHB][hapmap] |
rs6545559 | 0.91[CHB][hapmap];0.82[CHD][hapmap];0.87[ASN][1000 genomes] |
rs6719608 | 0.86[CHB][hapmap] |
rs727297 | 0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7579447 | 1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs763345 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs888279 | 0.86[CHB][hapmap];0.83[ASN][1000 genomes] |
rs979504 | 0.86[CHB][hapmap] |
rs994297 | 0.82[CHB][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv2757799 | chr2:56178439-56472394 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 34 gene(s) | inside rSNPs | diseases |
2 | esv2759051 | chr2:56178439-56472394 | Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 34 gene(s) | inside rSNPs | diseases |
3 | nsv874162 | chr2:56255832-56480571 | Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
4 | nsv874169 | chr2:56383762-56473480 | Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
5 | nsv961718 | chr2:56444857-56453716 | Weak transcription Enhancers Strong transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
6 | nsv530516 | chr2:56447922-56633505 | Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:56446800-56454600 | Weak transcription | HSMM | muscle |
2 | chr2:56452000-56454400 | Weak transcription | HUVEC | blood vessel |
3 | chr2:56453000-56454800 | Enhancers | Muscle Satellite Cultured Cells | -- |