Variant report
Variant | rs408238 |
---|---|
Chromosome Location | chr5:40877381-40877382 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:4 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:40857647..40860536-chr5:40876647..40878892,2 | K562 | blood: | |
2 | chr5:40834243..40835904-chr5:40876719..40878395,2 | K562 | blood: | |
3 | chr5:40877064..40878620-chr5:40889249..40891456,2 | MCF-7 | breast: | |
4 | chr5:40825063..40827594-chr5:40875913..40878688,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000145592 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10037936 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs10050965 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs10052625 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs10056837 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs10059556 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs10064232 | 1.00[ASN][1000 genomes] |
rs1070445 | 0.94[ASN][1000 genomes] |
rs1097592 | 0.94[ASN][1000 genomes] |
rs1097604 | 0.94[ASN][1000 genomes] |
rs1530811 | 1.00[ASN][1000 genomes] |
rs154273 | 0.88[ASN][1000 genomes] |
rs154274 | 0.94[ASN][1000 genomes] |
rs1631661 | 0.88[ASN][1000 genomes] |
rs1697929 | 0.94[ASN][1000 genomes] |
rs1697937 | 0.94[ASN][1000 genomes] |
rs1833892 | 1.00[ASN][1000 genomes] |
rs184436 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes] |
rs187274 | 0.88[ASN][1000 genomes] |
rs192962 | 0.94[ASN][1000 genomes] |
rs2262009 | 0.94[ASN][1000 genomes] |
rs249443 | 0.88[ASN][1000 genomes] |
rs249444 | 0.88[ASN][1000 genomes] |
rs29762 | 0.88[ASN][1000 genomes] |
rs29763 | 0.88[ASN][1000 genomes] |
rs29764 | 0.88[ASN][1000 genomes] |
rs323554 | 1.00[ASN][1000 genomes] |
rs323556 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes] |
rs323560 | 0.94[ASN][1000 genomes] |
rs323562 | 0.94[ASN][1000 genomes] |
rs39794 | 0.88[ASN][1000 genomes] |
rs418494 | 0.94[ASN][1000 genomes] |
rs42515 | 0.88[ASN][1000 genomes] |
rs433730 | 0.94[ASN][1000 genomes] |
rs442869 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes] |
rs466960 | 0.88[ASN][1000 genomes] |
rs694217 | 1.00[ASN][1000 genomes] |
rs7715627 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs7717507 | 1.00[ASN][1000 genomes] |
rs837378 | 0.94[ASN][1000 genomes] |
rs837381 | 0.94[ASN][1000 genomes] |
rs837382 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes] |
rs837384 | 0.94[ASN][1000 genomes] |
rs837385 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes] |
rs837389 | 0.94[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv880438 | chr5:40753877-40900717 | Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 160 gene(s) | inside rSNPs | diseases |
2 | esv3444044 | chr5:40860244-40888483 | Enhancers ZNF genes & repeats Weak transcription Active TSS | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
3 | nsv881467 | chr5:40869802-41008650 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
4 | esv2757114 | chr5:40874078-41009282 | Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
5 | esv2759341 | chr5:40874078-41009282 | Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
6 | nsv823055 | chr5:40875708-41004839 | Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
7 | esv35077 | chr5:40875843-41000671 | Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
No data |