Variant report
Variant | rs4835300 |
---|---|
Chromosome Location | chr4:147270395-147270396 |
allele | A/C |
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] |
---|---|
rs10023228 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs13114641 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs13121951 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1352066 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1352068 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs1485950 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2356822 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2630276 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs2630279 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2630283 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2630287 | 0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2679122 | 0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2679129 | 0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs2679133 | 0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2679137 | 0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2679138 | 0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs2679139 | 0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs2679152 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs4092340 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4103540 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4407528 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4516736 | 0.82[AMR][1000 genomes] |
rs4835032 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6537412 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs6537413 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs6852118 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6857518 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7670877 | 0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs7691153 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs923164 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs923165 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs9308200 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs9784489 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv461675 | chr4:147116864-147768206 | Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
2 | nsv595651 | chr4:147116864-147768206 | Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
3 | esv3451660 | chr4:147225135-147271246 | Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
4 | esv3443192 | chr4:147225234-147271217 | Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
5 | esv3468025 | chr4:147225279-147271172 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
6 | esv3468026 | chr4:147225279-147271172 | Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
7 | nsv1033640 | chr4:147232217-147531881 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 7 gene(s) | inside rSNPs | diseases |
8 | nsv917053 | chr4:147265436-147499653 | Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 3 gene(s) | inside rSNPs | diseases |
9 | nsv1023868 | chr4:147265443-147531626 | Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 4 gene(s) | inside rSNPs | diseases |
10 | nsv537293 | chr4:147265443-147531626 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 4 gene(s) | inside rSNPs | diseases |
11 | esv3400231 | chr4:147269396-147292066 | Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:147241800-147284800 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
2 | chr4:147265400-147270400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
3 | chr4:147268400-147270600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
4 | chr4:147270200-147270800 | Enhancers | NHEK | skin |
5 | chr4:147270200-147271000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |