Variant report
Variant | rs11125949 |
---|---|
Chromosome Location | chr2:63357876-63357877 |
allele | C/T |
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 | chr2:63355897..63358146-chr2:63361322..63363432,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10496101 | 1.00[ASW][hapmap];0.94[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes] |
rs12466601 | 0.94[CEU][hapmap];1.00[YRI][hapmap] |
rs12471038 | 1.00[ASW][hapmap];0.94[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes] |
rs12473894 | 1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs12475441 | 1.00[YRI][hapmap] |
rs12478442 | 1.00[ASW][hapmap];0.94[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap] |
rs12612046 | 1.00[ASW][hapmap];0.83[GIH][hapmap];1.00[YRI][hapmap] |
rs17348207 | 1.00[ASW][hapmap];0.94[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes] |
rs17432615 | 0.83[GIH][hapmap] |
rs17432663 | 1.00[YRI][hapmap] |
rs17474666 | 0.94[CEU][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes] |
rs17598689 | 0.89[GIH][hapmap] |
rs17657533 | 1.00[ASW][hapmap];0.89[GIH][hapmap];1.00[YRI][hapmap] |
rs17657580 | 1.00[ASW][hapmap];0.83[GIH][hapmap];1.00[YRI][hapmap] |
rs1829526 | 0.94[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes] |
rs4671458 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs4671459 | 1.00[CEU][hapmap];0.94[EUR][1000 genomes] |
rs4671460 | 0.81[AFR][1000 genomes];0.91[EUR][1000 genomes] |
rs4671461 | 1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes] |
rs72813408 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs72813411 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs72813412 | 0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs72813418 | 0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv535767 | chr2:62461582-63413596 | Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 50 gene(s) | inside rSNPs | diseases |
2 | esv3417336 | chr2:62957866-63749654 | Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
3 | nsv1006848 | chr2:63061816-63631407 | Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
4 | esv2756598 | chr2:63085848-63491438 | Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
5 | esv3340700 | chr2:63127412-63534998 | Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
6 | nsv1004678 | chr2:63230722-63562484 | Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:63344400-63360400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
2 | chr2:63346600-63399200 | Weak transcription | Left Ventricle | heart |
3 | chr2:63352800-63360200 | Weak transcription | Primary B cells from cord blood | blood |