Variant report
Variant | rs66509041 |
---|---|
Chromosome Location | chr7:48405917-48405918 |
allele | C/T |
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] |
---|---|
rs11972317 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs11973519 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11983883 | 0.82[AMR][1000 genomes];0.90[ASN][1000 genomes] |
rs1368653 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1433517 | 0.91[ASN][1000 genomes] |
rs1433518 | 0.82[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs1433519 | 0.91[ASN][1000 genomes] |
rs1526093 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17132278 | 0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs17132286 | 0.83[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs17132295 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs17172282 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs17661752 | 0.81[ASN][1000 genomes] |
rs17661898 | 0.91[ASN][1000 genomes] |
rs17712791 | 0.91[ASN][1000 genomes] |
rs1830106 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1880739 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs2117090 | 0.82[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs2117091 | 0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs34996049 | 0.91[ASN][1000 genomes] |
rs4145714 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4145715 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4342545 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4437599 | 0.91[ASN][1000 genomes] |
rs55869793 | 0.91[ASN][1000 genomes] |
rs61532297 | 0.91[ASN][1000 genomes] |
rs62449219 | 0.80[ASN][1000 genomes] |
rs6583405 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs67631839 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6946995 | 0.88[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs6955132 | 0.88[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs6958878 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6966454 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs6974064 | 0.81[ASN][1000 genomes] |
rs73097197 | 0.86[ASN][1000 genomes] |
rs73097201 | 0.90[ASN][1000 genomes] |
rs73099309 | 0.91[ASN][1000 genomes] |
rs73099311 | 0.91[ASN][1000 genomes] |
rs73099316 | 0.91[ASN][1000 genomes] |
rs73099324 | 0.88[ASN][1000 genomes] |
rs7780112 | 0.91[ASN][1000 genomes] |
rs7784325 | 0.88[ASN][1000 genomes] |
rs7795985 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7803797 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1027414 | chr7:48117684-48438543 | Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
2 | nsv817336 | chr7:48238233-48563988 | Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
3 | nsv1022980 | chr7:48243227-48567060 | Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
4 | nsv538833 | chr7:48243227-48567060 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
5 | nsv1022578 | chr7:48244414-48584664 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
6 | nsv1023575 | chr7:48244414-48586685 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
7 | nsv1015183 | chr7:48244414-48588598 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
8 | nsv1032135 | chr7:48293104-48414154 | Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
9 | nsv1032221 | chr7:48302789-48546684 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
10 | nsv533811 | chr7:48313757-48482470 | Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
11 | nsv1015399 | chr7:48321542-48544359 | Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
12 | nsv5733 | chr7:48387046-48434029 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS | TF binding region | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:48395400-48406400 | Weak transcription | Primary hematopoietic stem cells | blood |
2 | chr7:48403000-48409200 | Strong transcription | Primary neutrophils fromperipheralblood | blood |
3 | chr7:48404400-48406400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
4 | chr7:48404600-48406600 | Enhancers | HMEC | breast |
5 | chr7:48404800-48406600 | Enhancers | NHEK | skin |
6 | chr7:48405200-48406600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr7:48405800-48406600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |