Variant report
| Variant | rs3104205 |
|---|---|
| Chromosome Location | chr1:152095083-152095084 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- 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 | chr1:152092225..152095424-chr1:152096405..152099534,4 | K562 | blood: |
(count:1 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-OAZ3-4 | chr1:152095010-152095132 | ENSG00000226716.1 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000233792 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:12)
| rs_ID | r2[population] |
|---|---|
| rs1496037 | 1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs2999551 | 0.81[ASN][1000 genomes] |
| rs2999553 | 0.81[ASN][1000 genomes] |
| rs2999554 | 0.81[ASN][1000 genomes] |
| rs2999562 | 0.91[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs3001979 | 1.00[CEU][hapmap] |
| rs3007672 | 0.81[ASN][1000 genomes] |
| rs3007673 | 0.81[ASN][1000 genomes] |
| rs3007678 | 0.81[ASN][1000 genomes] |
| rs3122303 | 0.81[ASN][1000 genomes] |
| rs3134814 | 1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs58503750 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1007097 | chr1:151832796-152227977 | Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 196 gene(s) | inside rSNPs | diseases |
| 2 | nsv1012327 | chr1:151835544-152200890 | Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 196 gene(s) | inside rSNPs | diseases |
| 3 | nsv535159 | chr1:151835544-152200890 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 196 gene(s) | inside rSNPs | diseases |
| 4 | nsv547853 | chr1:152008671-152236760 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 83 gene(s) | inside rSNPs | diseases |
| 5 | nsv872442 | chr1:152054120-152187641 | Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs3104205 | S100A11 | cis | Artery Tibial | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:152092400-152097200 | Weak transcription | Spleen | Spleen |
