Variant report
Variant | rs2914200 |
---|---|
Chromosome Location | chr5:112945992-112945993 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10045444 | 0.82[AMR][1000 genomes] |
rs1132528 | 0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.88[AMR][1000 genomes] |
rs11957650 | 0.90[AMR][1000 genomes] |
rs12657961 | 0.82[ASW][hapmap] |
rs164251 | 0.81[CEU][hapmap] |
rs164253 | 0.96[CEU][hapmap];0.88[JPT][hapmap] |
rs2303717 | 0.88[AMR][1000 genomes] |
rs2416282 | 1.00[ASW][hapmap];0.88[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap] |
rs2910018 | 0.81[CEU][hapmap] |
rs348937 | 0.84[CEU][hapmap];0.81[GIH][hapmap] |
rs348943 | 0.84[CEU][hapmap] |
rs3906371 | 0.96[MEX][hapmap] |
rs423089 | 0.81[CEU][hapmap] |
rs4398627 | 0.84[MEX][hapmap] |
rs459428 | 0.81[CEU][hapmap] |
rs461034 | 0.81[CEU][hapmap] |
rs463216 | 0.81[CEU][hapmap] |
rs4639215 | 0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap] |
rs465898 | 0.81[CEU][hapmap] |
rs4705831 | 0.88[AMR][1000 genomes] |
rs66534827 | 0.91[AMR][1000 genomes] |
rs675353 | 0.84[ASW][hapmap];0.81[CEU][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap] |
rs9326895 | 0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap] |
rs9552 | 0.82[ASW][hapmap];0.96[MEX][hapmap];0.86[AMR][1000 genomes] |
rs9885084 | 0.92[AMR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv882721 | chr5:112859994-112963488 | Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 1 gene(s) | inside rSNPs | diseases |
2 | nsv1033202 | chr5:112891857-112945992 | Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 1 gene(s) | inside rSNPs | diseases |
3 | esv2752057 | chr5:112916398-112945992 | Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 1 gene(s) | inside rSNPs | diseases |
4 | nsv1029507 | chr5:112916398-112945992 | Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 1 gene(s) | inside rSNPs | diseases |
5 | esv2763910 | chr5:112916398-112951827 | Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 1 gene(s) | inside rSNPs | diseases |
6 | nsv1031336 | chr5:112916398-112956588 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 1 gene(s) | inside rSNPs | diseases |
7 | nsv4961 | chr5:112945908-112991152 | Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:112944200-112949000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
2 | chr5:112944400-112950000 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
3 | chr5:112944400-112950000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |