Variant report
Variant | rs6727224 |
---|---|
Chromosome Location | chr2:145367508-145367509 |
allele | A/C |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:8 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:145365652..145369289-chr2:145381378..145385045,3 | K562 | blood: | |
2 | chr2:145360436..145364930-chr2:145366386..145368728,4 | K562 | blood: | |
3 | chr2:145273305..145275815-chr2:145366066..145368702,2 | K562 | blood: | |
4 | chr2:145365602..145368379-chr2:145377903..145380221,2 | K562 | blood: | |
5 | chr2:145358144..145360205-chr2:145366670..145368227,2 | K562 | blood: | |
6 | chr2:145276561..145278428-chr2:145367076..145369134,2 | K562 | blood: | |
7 | chr2:145340725..145342679-chr2:145364744..145367552,2 | K562 | blood: | |
8 | chr2:145365934..145367836-chr2:145369062..145370883,3 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000169554 | Chromatin interaction |
ENSG00000238057 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10187896 | 0.95[ASN][1000 genomes] |
rs10201960 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs1035837 | 0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs10496964 | 0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10496965 | 0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10803510 | 0.81[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs12691695 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12691696 | 0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs13020210 | 0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1346343 | 0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1346344 | 0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1427499 | 0.84[AFR][1000 genomes];0.94[ASN][1000 genomes] |
rs1427500 | 0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1427506 | 0.96[ASN][1000 genomes] |
rs1427507 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1427508 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1559964 | 0.82[ASN][1000 genomes] |
rs16823886 | 0.92[ASN][1000 genomes] |
rs17690892 | 0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs17741930 | 0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs1834787 | 0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2162571 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2381649 | 0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4143011 | 0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs4662385 | 0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4662386 | 0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4662388 | 0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs6731249 | 0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs7565134 | 0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs767381 | 0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1067624 | chr2:144657717-145425705 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
2 | nsv531413 | chr2:144657717-145425705 | Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
3 | nsv916172 | chr2:144970681-145425713 | Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
4 | nsv948474 | chr2:145035890-145436665 | Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
5 | nsv1002563 | chr2:145182201-145863253 | Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
6 | nsv535957 | chr2:145182201-145863253 | Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
7 | nsv531662 | chr2:145219415-145422833 | Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
8 | nsv529501 | chr2:145257682-145485605 | Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:145362000-145369200 | Enhancers | Primary monocytes fromperipheralblood | blood |
2 | chr2:145366200-145368400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
3 | chr2:145366400-145373200 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
4 | chr2:145366800-145367800 | Enhancers | Monocytes-CD14+_RO01746 | blood |
5 | chr2:145367400-145367600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |