Variant report
Variant | rs57366619 |
---|---|
Chromosome Location | chr1:174304067-174304068 |
allele | A/C |
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:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:174302180..174304421-chr1:174305573..174307627,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10158115 | 0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10912761 | 0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10912797 | 0.81[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10912804 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs10912807 | 0.81[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs11804541 | 0.80[ASN][1000 genomes] |
rs12077622 | 0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs12084119 | 0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12087441 | 0.81[EUR][1000 genomes] |
rs12088073 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12094143 | 0.85[ASN][1000 genomes] |
rs17301013 | 0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2049992 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2064149 | 0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs2072760 | 0.81[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs2142633 | 0.80[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs2143114 | 0.81[EUR][1000 genomes] |
rs2179214 | 0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs3737651 | 0.85[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs4650989 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs4650990 | 0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs4652234 | 0.82[EUR][1000 genomes] |
rs4652237 | 0.81[EUR][1000 genomes] |
rs4652294 | 0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs4652297 | 0.93[ASN][1000 genomes] |
rs56347239 | 0.80[ASN][1000 genomes] |
rs60363188 | 0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6425279 | 0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs6425280 | 0.90[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs6425281 | 0.87[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs6425282 | 0.83[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs6425283 | 0.82[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs6656188 | 0.81[EUR][1000 genomes] |
rs6658543 | 0.82[EUR][1000 genomes] |
rs6664764 | 0.85[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs6666767 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6667267 | 0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs6668053 | 0.81[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs6670617 | 0.94[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6681390 | 0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6681618 | 0.89[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs6681780 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6690570 | 0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs6693423 | 0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6695636 | 0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs727279 | 0.82[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs7512930 | 0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7523263 | 0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7523460 | 0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7523938 | 0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7537517 | 0.91[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs7548540 | 0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7552830 | 0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7555067 | 0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs972361 | 0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs9787001 | 0.92[EUR][1000 genomes];0.83[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv872552 | chr1:174061844-174469748 | Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 30 gene(s) | inside rSNPs | diseases |
2 | nsv1008314 | chr1:174080192-174311023 | Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
3 | nsv535207 | chr1:174080192-174311023 | Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
4 | esv1799250 | chr1:174119038-174484277 | Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
5 | esv1800060 | chr1:174132703-174501836 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
6 | nsv465672 | chr1:174133251-174469905 | Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
7 | nsv548194 | chr1:174133251-174469905 | Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
8 | nsv470746 | chr1:174150850-174469905 | Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
9 | nsv1001803 | chr1:174176164-174367747 | Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
10 | nsv1008993 | chr1:174180019-174331358 | Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 9 gene(s) | inside rSNPs | diseases |
11 | nsv872553 | chr1:174195629-174373379 | ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
12 | nsv1010069 | chr1:174215293-174539512 | Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
13 | nsv1014637 | chr1:174265631-174826765 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
14 | nsv535208 | chr1:174265631-174826765 | Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
15 | nsv1014753 | chr1:174271770-174694838 | Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
16 | esv1795045 | chr1:174273004-174346276 | ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:174295200-174304600 | Weak transcription | Lung | lung |
2 | chr1:174295200-174306400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
3 | chr1:174295200-174306600 | Weak transcription | Ovary | ovary |
4 | chr1:174296200-174309400 | Weak transcription | Primary T regulatory cells fromperipheralblood | blood |
5 | chr1:174296800-174305800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
6 | chr1:174296800-174322000 | Weak transcription | Primary B cells from cord blood | blood |
7 | chr1:174298000-174361800 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
8 | chr1:174302800-174304800 | Weak transcription | Primary T cells from cord blood | blood |
9 | chr1:174303600-174313000 | Weak transcription | Left Ventricle | heart |