Variant report
| Variant | rs1446514 |
|---|---|
| Chromosome Location | chr2:113757973-113757974 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:7 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:113756681..113759563-chr2:113795115..113796939,2 | K562 | blood: | |
| 2 | chr2:113757191..113759734-chr2:113762497..113764783,2 | K562 | blood: | |
| 3 | chr2:113756642..113760265-chr2:113761535..113765046,5 | K562 | blood: | |
| 4 | chr2:113756435..113758227-chr2:113770315..113771981,2 | K562 | blood: | |
| 5 | chr2:113751007..113754364-chr2:113757829..113763549,5 | K562 | blood: | |
| 6 | chr2:113757048..113759917-chr2:113761667..113764022,3 | MCF-7 | breast: | |
| 7 | chr2:113752348..113754639-chr2:113757517..113759380,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000136694 | Chromatin interaction |
| ENSG00000232090 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs1006122 | 0.83[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs10179646 | 0.98[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs1020404 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11894902 | 0.93[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs1446511 | 0.96[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs1446512 | 0.96[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1446515 | 1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1562306 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1596894 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1867831 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs4849136 | 1.00[CEU][hapmap];1.00[YRI][hapmap] |
| rs56141952 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6744874 | 0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs6745709 | 0.93[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs6749299 | 0.93[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs7584409 | 1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs895497 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9308681 | 0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv532471 | chr2:113682449-113862981 | ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
| 2 | nsv997348 | chr2:113688093-113986508 | Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| 3 | nsv1007254 | chr2:113726982-113887782 | Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
| 4 | nsv535894 | chr2:113726982-113887782 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
| 5 | nsv874878 | chr2:113742734-113776076 | Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
