Variant report
Variant | rs10931040 |
---|---|
Chromosome Location | chr2:183665741-183665742 |
allele | A/C |
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 | chr2:183660311..183663383-chr2:183663723..183666825,3 | K562 | blood: | |
2 | chr2:183648162..183650730-chr2:183663988..183666770,2 | K562 | blood: | |
3 | chr2:183664890..183667245-chr2:183673485..183675403,2 | K562 | blood: | |
4 | chr2:183659213..183661128-chr2:183664377..183666463,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs1037404 | 0.80[EUR][1000 genomes] |
rs11695731 | 0.81[ASW][hapmap];0.82[YRI][hapmap] |
rs13509 | 0.81[CEU][hapmap] |
rs1452312 | 0.80[EUR][1000 genomes] |
rs17356762 | 0.96[CEU][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs208393 | 0.81[CEU][hapmap] |
rs2118591 | 0.88[CEU][hapmap];0.90[YRI][hapmap] |
rs288240 | 0.81[CEU][hapmap] |
rs288253 | 0.81[CEU][hapmap] |
rs288258 | 0.81[CEU][hapmap] |
rs288259 | 0.80[CEU][hapmap] |
rs288280 | 0.81[CEU][hapmap] |
rs288283 | 0.81[CEU][hapmap] |
rs288306 | 0.81[CEU][hapmap] |
rs288307 | 0.81[CEU][hapmap] |
rs288310 | 0.81[CEU][hapmap] |
rs288311 | 0.81[CEU][hapmap] |
rs288342 | 0.81[EUR][1000 genomes] |
rs288343 | 0.83[EUR][1000 genomes] |
rs288344 | 0.84[EUR][1000 genomes] |
rs288346 | 0.84[EUR][1000 genomes] |
rs3738945 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs438248 | 0.81[CEU][hapmap] |
rs4584994 | 0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6716810 | 0.88[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs6729801 | 0.92[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs6745697 | 0.83[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs6761415 | 0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7576939 | 0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs7606369 | 0.93[ASN][1000 genomes] |
rs825660 | 0.81[CEU][hapmap] |
rs825668 | 0.81[CEU][hapmap] |
rs9678817 | 0.80[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1009882 | chr2:183213152-184171519 | Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 35 gene(s) | inside rSNPs | diseases |
2 | esv2757842 | chr2:183437700-183835084 | Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
3 | esv2759104 | chr2:183437700-183835084 | Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
4 | esv2756954 | chr2:183528670-183764930 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active 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 |
5 | esv34847 | chr2:183537399-183786763 | Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
6 | esv3693445 | chr2:183542825-183725221 | Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
7 | nsv1004531 | chr2:183648083-183698793 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
8 | nsv536070 | chr2:183648083-183698793 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:183664400-183665800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |