Variant report
| Variant | rs2485884 |
|---|---|
| Chromosome Location | chr1:210357399-210357400 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:210356850..210358430-chr1:210545315..210547010,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs1338286 | 0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs1338298 | 0.91[YRI][hapmap] |
| rs1806963 | 0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs2096152 | 0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs2451696 | 0.97[ASN][1000 genomes] |
| rs2451697 | 0.97[ASN][1000 genomes] |
| rs2484030 | 1.00[ASN][1000 genomes] |
| rs2484031 | 1.00[ASN][1000 genomes] |
| rs2484032 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs2484034 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs2485883 | 0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs2485885 | 0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs2485897 | 0.84[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2485898 | 0.86[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2485902 | 0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs2487907 | 0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs2494170 | 0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2494191 | 0.81[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs4844954 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs654523 | 0.91[YRI][hapmap] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1014034 | chr1:209759648-210501731 | Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2485884 | G0S2 | cis | lymphoblastoid | seeQTL |
| rs2485884 | DIEXF | cis | lymphoblastoid | seeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:210339400-210361200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
