Variant report
| Variant | rs188002 |
|---|---|
| Chromosome Location | chr6:140473067-140473068 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:140469028..140473078-chr6:140508512..140512504,3 | K562 | blood: | |
| 2 | chr6:140467252..140471466-chr6:140472412..140477060,5 | K562 | blood: | |
| 3 | chr6:137112078..137114142-chr6:140471366..140473428,2 | K562 | blood: | |
| 4 | chr6:140468598..140473264-chr6:140478819..140483258,6 | K562 | blood: | |
| 5 | chr6:140470460..140473376-chr6:140484391..140487088,2 | K562 | blood: | |
| 6 | chr6:140468329..140473264-chr6:140478010..140482818,5 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000197442 | Chromatin interaction |
| ENSG00000252107 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs1390499 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs1416287 | 0.84[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs1416288 | 1.00[YRI][hapmap] |
| rs1572671 | 0.82[EUR][1000 genomes] |
| rs201281 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4895579 | 0.84[YRI][hapmap] |
| rs505897 | 0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs623331 | 0.84[YRI][hapmap] |
| rs6570390 | 0.83[ASN][1000 genomes] |
| rs675432 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs6921044 | 0.82[EUR][1000 genomes] |
| rs6933684 | 0.81[YRI][hapmap] |
| rs9321762 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs9376510 | 0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs9389786 | 0.90[ASN][1000 genomes] |
| rs9389787 | 0.88[ASN][1000 genomes] |
| rs9389788 | 0.80[ASN][1000 genomes] |
| rs982369 | 0.89[CHB][hapmap];1.00[YRI][hapmap] |
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 | nsv869066 | chr6:139777114-140639695 | Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 26 gene(s) | inside rSNPs | diseases |
| 2 | nsv1016532 | chr6:140174639-141029988 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 17 gene(s) | inside rSNPs | diseases |
| 3 | nsv886693 | chr6:140444057-140578494 | Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:140471400-140479200 | Weak transcription | Placenta | Placenta |
| 2 | chr6:140472200-140473400 | Weak transcription | K562 | blood |
