Variant report
Variant | rs2515391 |
---|---|
Chromosome Location | chr2:113815997-113815998 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:3 , 50 per page) page:
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No data |
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Variant related genes | Relation type |
---|---|
ENSG00000136696 | Chromatin interaction |
ENSG00000136695 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10206428 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs11123158 | 0.84[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs12475161 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1374285 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs1374286 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs1530548 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs1530550 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs1530551 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs1530552 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs1530553 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs1800930 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2251872 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs2251876 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2252007 | 0.89[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs2441375 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs2441376 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs2472187 | 0.89[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs2472188 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2515392 | 0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2515394 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs2515395 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs2515396 | 0.91[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs2515397 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs2515398 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs2515399 | 0.88[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs2515401 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2515402 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2515403 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs3180234 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs3180235 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4849146 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6733859 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs6748448 | 0.88[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs768627 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs957201 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv532471 | chr2:113682449-113862981 | ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
2 | nsv997348 | chr2:113688093-113986508 | Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
3 | nsv1007254 | chr2:113726982-113887782 | Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
4 | nsv535894 | chr2:113726982-113887782 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
5 | nsv2881 | chr2:113800805-113846597 | Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:113814200-113816200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr2:113814600-113818400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
3 | chr2:113815200-113816200 | Weak transcription | Placenta | Placenta |
4 | chr2:113815800-113817400 | Enhancers | NHEK | skin |