Variant report
Variant | rs2588395 |
---|---|
Chromosome Location | chr12:40900137-40900138 |
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] |
---|---|
rs10878602 | 0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10878603 | 0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs11176655 | 0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs11564230 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs12581232 | 0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1388782 | 0.94[ASN][1000 genomes] |
rs1388784 | 0.92[ASN][1000 genomes] |
rs1427259 | 0.84[JPT][hapmap] |
rs1427261 | 0.84[JPT][hapmap];0.87[MEX][hapmap] |
rs1444215 | 0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs1492321 | 0.81[TSI][hapmap] |
rs1816207 | 0.84[JPT][hapmap] |
rs2588414 | 0.94[ASN][1000 genomes] |
rs2588417 | 0.93[ASN][1000 genomes] |
rs2638866 | 0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2638868 | 0.93[ASN][1000 genomes] |
rs2638876 | 0.81[ASN][1000 genomes] |
rs2638877 | 0.88[ASN][1000 genomes] |
rs2638881 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2920813 | 0.94[ASN][1000 genomes] |
rs2920832 | 0.94[ASN][1000 genomes] |
rs2933346 | 0.92[ASN][1000 genomes] |
rs2933353 | 0.92[ASN][1000 genomes] |
rs2933354 | 0.94[ASN][1000 genomes] |
rs2933364 | 0.94[ASN][1000 genomes] |
rs2933379 | 0.92[ASN][1000 genomes] |
rs2933380 | 0.92[ASN][1000 genomes] |
rs3861083 | 0.84[JPT][hapmap] |
rs4099579 | 0.84[JPT][hapmap] |
rs6581723 | 0.84[JPT][hapmap];0.94[MEX][hapmap] |
rs7136122 | 0.84[JPT][hapmap];0.81[MEX][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv899033 | chr12:40758652-41122288 | Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
2 | esv3519672 | chr12:40898422-40907859 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
3 | nsv983435 | chr12:40898783-40903918 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
4 | esv3377041 | chr12:40898929-40905079 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
5 | esv9377 | chr12:40898931-40905123 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
6 | esv3387261 | chr12:40898980-40905120 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
7 | esv3519673 | chr12:40898984-40905196 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
8 | esv3519675 | chr12:40898984-40905196 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
9 | nsv512268 | chr12:40899000-40905722 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
10 | esv3402193 | chr12:40899025-40905131 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
11 | esv3431848 | chr12:40899046-40902055 | Enhancers Weak transcription | n/a | n/a | inside rSNPs | diseases |
12 | esv3447251 | chr12:40899046-40905008 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
13 | esv3524253 | chr12:40899064-40905070 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
14 | esv3524254 | chr12:40899064-40905070 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
15 | esv3349674 | chr12:40899126-40905088 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
16 | esv3446930 | chr12:40899146-40905058 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
17 | esv3325479 | chr12:40899796-40902880 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
18 | esv3417437 | chr12:40900070-40907460 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:40894800-40908600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr12:40899200-40904600 | Weak transcription | GM12878-XiMat | blood |