Variant report
Variant | rs12332585 |
---|---|
Chromosome Location | chr5:115581395-115581396 |
allele | A/G |
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 |
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No data |
rs_ID | r2[population] |
---|---|
rs10035646 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10036292 | 0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10040345 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10042278 | 0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10043228 | 0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10051240 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10052306 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs10054248 | 0.98[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10056936 | 0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10063296 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10073364 | 0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10079089 | 0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10079394 | 0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10155600 | 0.92[EUR][1000 genomes] |
rs10478288 | 0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10519448 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12152964 | 1.00[EUR][1000 genomes] |
rs12153338 | 1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12153717 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12153778 | 1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12332489 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12332658 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12515251 | 1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12515466 | 0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12519989 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12520568 | 1.00[EUR][1000 genomes] |
rs12520613 | 1.00[EUR][1000 genomes] |
rs12520632 | 1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12520838 | 0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12521440 | 1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12521612 | 0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12522027 | 0.98[EUR][1000 genomes] |
rs12522441 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs12523347 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs13362043 | 0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs1382339 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs1422500 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs1592917 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs17139192 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs17139193 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs17139224 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs17139265 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17139314 | 0.98[EUR][1000 genomes] |
rs17139457 | 0.98[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2136208 | 0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs35696109 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs4283834 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs4398671 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs59447169 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384181 | 0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384184 | 0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384186 | 0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384187 | 0.84[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs62384189 | 0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384212 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384213 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384215 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384229 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384230 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384231 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384233 | 0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384235 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384236 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384237 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs62384238 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384250 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs62384253 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384461 | 1.00[EUR][1000 genomes] |
rs62384468 | 1.00[EUR][1000 genomes] |
rs62384469 | 0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384471 | 0.88[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62384476 | 1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs62384477 | 0.98[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs62384491 | 1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62385219 | 0.82[AMR][1000 genomes];0.88[ASN][1000 genomes] |
rs62385975 | 0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62385980 | 1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs62385993 | 1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs6876972 | 0.98[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs6880880 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7443669 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7727882 | 1.00[EUR][1000 genomes] |
rs9326994 | 0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv34146 | chr5:115315944-115729919 | Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
2 | esv2755349 | chr5:115384101-115733101 | Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
3 | nsv1032531 | chr5:115489694-115583800 | Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
4 | nsv882742 | chr5:115489770-115584159 | ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
5 | nsv882743 | chr5:115501792-115634127 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
6 | nsv524812 | chr5:115517238-115584159 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
7 | nsv1019540 | chr5:115526349-115610020 | Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
8 | esv2752058 | chr5:115533065-115605198 | Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
9 | nsv1016585 | chr5:115533065-115605455 | Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
10 | nsv1032799 | chr5:115533065-115609552 | Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
11 | nsv1016924 | chr5:115533065-115610020 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
12 | nsv599481 | chr5:115540041-115609552 | Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
13 | nsv1028663 | chr5:115540586-115586834 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
14 | nsv1024670 | chr5:115540586-115615459 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
15 | nsv519321 | chr5:115541563-115584159 | Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
16 | nsv462401 | chr5:115541563-115609552 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
17 | nsv599482 | chr5:115541563-115609552 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
18 | nsv521050 | chr5:115541563-115617297 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
19 | nsv599483 | chr5:115561128-115609552 | Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
20 | nsv882744 | chr5:115561128-115609552 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
21 | nsv882745 | chr5:115561128-115616288 | ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
22 | nsv882746 | chr5:115566026-115704566 | Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
23 | nsv882747 | chr5:115566636-115662510 | Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
24 | esv34428 | chr5:115575513-115626966 | Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
25 | esv2753795 | chr5:115576026-115626966 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
26 | esv2755740 | chr5:115576139-115633474 | ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
27 | nsv1017983 | chr5:115578765-115713688 | Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
28 | esv2757134 | chr5:115578810-115633474 | ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
29 | esv2759372 | chr5:115578810-115633474 | Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:115557400-115583200 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
2 | chr5:115560400-115610600 | Weak transcription | Left Ventricle | heart |
3 | chr5:115561800-115586400 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
4 | chr5:115562400-115589000 | Weak transcription | Ovary | ovary |
5 | chr5:115569800-115582200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
6 | chr5:115578800-115586000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
7 | chr5:115579600-115581800 | Weak transcription | Fetal Intestine Large | intestine |
8 | chr5:115579600-115610600 | Weak transcription | Primary B cells from cord blood | blood |
9 | chr5:115581200-115581400 | ZNF genes & repeats | Primary T cells from cord blood | blood |