Variant report
| Variant | rs699976 |
|---|---|
| Chromosome Location | chr6:49709550-49709551 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:49708292..49710588-chr6:49808202..49811162,2 | K562 | blood: | |
| 2 | chr6:49702867..49705670-chr6:49708878..49713468,7 | K562 | blood: | |
| 3 | chr6:49706978..49709884-chr6:49714638..49716338,2 | K562 | blood: | |
| 4 | chr6:49602202..49605447-chr6:49703297..49710547,8 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000112077 | Chromatin interaction |
| ENSG00000096006 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs173398 | 0.88[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs187360 | 0.83[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs360549 | 0.86[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs360550 | 0.86[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs360554 | 0.81[ASN][1000 genomes] |
| rs489184 | 0.80[ASN][1000 genomes] |
| rs495335 | 0.84[ASN][1000 genomes] |
| rs500423 | 0.83[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs503549 | 0.88[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs508949 | 0.88[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs509699 | 0.84[ASN][1000 genomes] |
| rs517705 | 0.83[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs527461 | 0.82[ASN][1000 genomes] |
| rs547848 | 0.83[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs547972 | 0.84[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs553723 | 0.81[ASN][1000 genomes] |
| rs555247 | 0.85[ASN][1000 genomes] |
| rs561127 | 0.88[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs602273 | 0.81[EUR][1000 genomes] |
| rs609156 | 0.88[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs662874 | 0.81[ASN][1000 genomes] |
| rs699954 | 0.82[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs699957 | 0.83[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs699958 | 0.83[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs699966 | 0.84[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs699983 | 0.88[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs699987 | 0.88[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs699989 | 0.86[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs780442 | 0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv933942 | chr6:49480550-50004231 | Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 25 gene(s) | inside rSNPs | diseases |
| 2 | nsv933833 | chr6:49515134-49961765 | Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:49705600-49711000 | Enhancers | Primary neutrophils fromperipheralblood | blood |
| 2 | chr6:49709200-49710800 | Weak transcription | K562 | blood |
