Variant report
| Variant | rs2029429 |
|---|---|
| Chromosome Location | chr2:10847261-10847262 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:10827201..10831134-chr2:10846499..10849265,4 | K562 | blood: | |
| 2 | chr2:10828574..10833568-chr2:10841193..10850887,9 | MCF-7 | breast: | |
| 3 | chr2:10828227..10830707-chr2:10846662..10848868,2 | K562 | blood: | |
| 4 | chr2:10839232..10841337-chr2:10846829..10849660,2 | MCF-7 | breast: | |
| 5 | chr2:10833924..10835484-chr2:10847110..10849178,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000243819 | Chromatin interaction |
| ENSG00000115761 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs10803726 | 0.96[AFR][1000 genomes] |
| rs11683565 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11687590 | 0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11692730 | 0.97[AFR][1000 genomes] |
| rs11895561 | 1.00[EUR][1000 genomes] |
| rs11895617 | 1.00[EUR][1000 genomes] |
| rs11903869 | 1.00[EUR][1000 genomes] |
| rs16856397 | 1.00[EUR][1000 genomes] |
| rs4669611 | 0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs59455884 | 1.00[EUR][1000 genomes] |
| rs6704577 | 1.00[EUR][1000 genomes] |
| rs6757971 | 1.00[EUR][1000 genomes] |
| rs6757978 | 1.00[EUR][1000 genomes] |
| rs73917006 | 1.00[EUR][1000 genomes] |
| rs7560753 | 0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7561192 | 0.97[AFR][1000 genomes] |
| rs7604741 | 0.93[ASW][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1000953 | chr2:10717304-10921805 | Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
| 2 | nsv535584 | chr2:10717304-10921805 | Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
| 3 | nsv833381 | chr2:10723465-10911284 | Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
| 4 | nsv1000731 | chr2:10758657-10943882 | Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:10847000-10848400 | Enhancers | GM12878-XiMat | blood |
| 2 | chr2:10847200-10847400 | Bivalent Enhancer | K562 | blood |
