Variant report
| Variant | rs1270030 |
|---|---|
| Chromosome Location | chr14:63430150-63430151 |
| allele | A/G |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr14:63428609..63430223-chr14:63444696..63447278,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs10132994 | 0.82[CHB][hapmap];0.92[CHD][hapmap];0.83[ASN][1000 genomes] |
| rs10134227 | 0.83[ASN][1000 genomes] |
| rs10142341 | 0.82[CHB][hapmap];0.83[ASN][1000 genomes] |
| rs10142445 | 0.82[CHB][hapmap];0.83[ASN][1000 genomes] |
| rs10143651 | 0.82[CHB][hapmap];0.83[ASN][1000 genomes] |
| rs10145991 | 0.83[ASN][1000 genomes] |
| rs10146138 | 0.83[ASN][1000 genomes] |
| rs11621143 | 0.83[ASN][1000 genomes] |
| rs11848897 | 1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[ASN][1000 genomes] |
| rs1255497 | 0.95[CEU][hapmap];0.90[YRI][hapmap] |
| rs1255501 | 0.95[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs1255502 | 0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs1268640 | 0.95[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap] |
| rs1268641 | 0.90[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs1271556 | 0.95[CEU][hapmap];0.85[YRI][hapmap] |
| rs1272916 | 0.95[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs17100629 | 0.82[CHB][hapmap];0.92[CHD][hapmap];0.83[ASN][1000 genomes] |
| rs2749405 | 0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs28416602 | 0.83[ASN][1000 genomes] |
| rs41422646 | 0.82[CHB][hapmap];0.92[CHD][hapmap] |
| rs56913206 | 0.83[ASN][1000 genomes] |
| rs59763288 | 0.83[ASN][1000 genomes] |
| rs991517 | 0.95[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][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 | nsv527251 | chr14:63400786-64068806 | Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
| 2 | nsv520528 | chr14:63400786-64157117 | Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
| 3 | nsv902016 | chr14:63411610-63439033 | Enhancers Weak transcription ZNF genes & repeats Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
