Variant report
| Variant | rs1971329 |
|---|---|
| Chromosome Location | chr6:44313986-44313987 |
| allele | G/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 | chr6:44213933..44216610-chr6:44311528..44314415,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000096384 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs10948134 | 0.95[EUR][1000 genomes] |
| rs11755211 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs13220856 | 0.95[EUR][1000 genomes] |
| rs1571774 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs1609726 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs16871772 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2221224 | 0.92[EUR][1000 genomes] |
| rs2396239 | 0.88[AFR][1000 genomes];0.93[EUR][1000 genomes] |
| rs4714782 | 0.97[EUR][1000 genomes] |
| rs4714783 | 0.97[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs4714784 | 0.94[EUR][1000 genomes] |
| rs4714785 | 0.94[EUR][1000 genomes] |
| rs6911823 | 0.96[AFR][1000 genomes];0.99[EUR][1000 genomes] |
| rs6935417 | 0.94[EUR][1000 genomes] |
| rs7738562 | 0.95[EUR][1000 genomes] |
| rs7760813 | 0.97[EUR][1000 genomes] |
| rs7772720 | 0.97[AFR][1000 genomes];0.99[EUR][1000 genomes] |
| rs883193 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs883194 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs9349282 | 0.92[AFR][1000 genomes];0.99[EUR][1000 genomes] |
| rs9381313 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9381315 | 0.81[EUR][1000 genomes] |
| rs9472263 | 0.95[EUR][1000 genomes] |
| rs950230 | 0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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 | nsv931987 | chr6:43624625-44350167 | Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 201 gene(s) | inside rSNPs | diseases |
| 2 | nsv1019145 | chr6:44313576-44421440 | Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:44310600-44317600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr6:44310800-44314400 | Weak transcription | Pancreas | Pancrea |
