Variant report
| Variant | rs12199709 |
|---|---|
| Chromosome Location | chr6:74027134-74027135 |
| allele | C/T |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:74017750..74019913-chr6:74026260..74028005,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000135314 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs10455272 | 1.00[ASN][1000 genomes] |
| rs10943084 | 1.00[ASN][1000 genomes] |
| rs10943085 | 1.00[ASN][1000 genomes] |
| rs11963438 | 1.00[ASN][1000 genomes] |
| rs12190274 | 1.00[ASN][1000 genomes] |
| rs12199821 | 1.00[ASN][1000 genomes] |
| rs12203786 | 1.00[ASN][1000 genomes] |
| rs12207480 | 1.00[ASN][1000 genomes] |
| rs12208950 | 1.00[ASN][1000 genomes] |
| rs12210588 | 1.00[ASN][1000 genomes] |
| rs12213765 | 1.00[ASN][1000 genomes] |
| rs12529651 | 1.00[ASN][1000 genomes] |
| rs16883518 | 1.00[ASN][1000 genomes] |
| rs16883564 | 1.00[ASN][1000 genomes] |
| rs16883571 | 1.00[ASN][1000 genomes] |
| rs35542640 | 1.00[ASN][1000 genomes] |
| rs45491600 | 1.00[ASN][1000 genomes] |
| rs55810380 | 1.00[ASN][1000 genomes] |
| rs56159527 | 1.00[ASN][1000 genomes] |
| rs62411451 | 1.00[ASN][1000 genomes] |
| rs62438243 | 1.00[ASN][1000 genomes] |
| rs62438245 | 1.00[ASN][1000 genomes] |
| rs62440564 | 0.83[ASN][1000 genomes] |
| rs62440565 | 0.83[ASN][1000 genomes] |
| rs72947904 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3410973 | chr6:73716033-74419545 | Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 191 gene(s) | inside rSNPs | diseases |
| 2 | nsv518874 | chr6:74014468-74041424 | Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
| 3 | nsv966628 | chr6:74020000-74034657 | Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12199709 | C6orf148 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:74020400-74027400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
