Variant report
| Variant | rs11611327 |
|---|---|
| Chromosome Location | chr12:48935999-48936000 |
| allele | C/T |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:48935790..48936824-chr12:49011913..49012916,27 | K562 | blood: | |
| 2 | chr12:48934748..48937258-chr12:49020074..49022107,2 | K562 | blood: | |
| 3 | chr12:48935680..48937116-chr12:49011674..49012886,17 | MCF-7 | breast: | |
| 4 | chr12:48935919..48936970-chr12:49189329..49190246,4 | K562 | blood: | |
| 5 | chr12:48935776..48936689-chr12:49189357..49190185,2 | MCF-7 | breast: | |
| 6 | chr12:48934973..48936541-chr12:49010116..49012626,2 | MCF-7 | breast: | |
| 7 | chr12:48935860..48936459-chr12:49189641..49190580,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000224709 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs11612896 | 0.80[GIH][hapmap] |
| rs11829869 | 0.80[GIH][hapmap] |
| rs11832311 | 0.80[GIH][hapmap] |
| rs12318285 | 0.95[CEU][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes] |
| rs12425518 | 0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.80[ASN][1000 genomes] |
| rs2712611 | 0.83[ASN][1000 genomes] |
| rs4620769 | 0.80[GIH][hapmap] |
| rs56053566 | 0.84[EUR][1000 genomes] |
| rs56413025 | 0.82[EUR][1000 genomes] |
| rs61942833 | 0.82[EUR][1000 genomes] |
| rs7306166 | 0.81[CHB][hapmap] |
| rs7966826 | 0.80[GIH][hapmap] |
| rs7974371 | 0.86[LWK][hapmap];0.90[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 | nsv427911 | chr12:48670336-48979396 | Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 2 | nsv1047600 | chr12:48927514-48954225 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv1048307 | chr12:48927514-48958949 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11611327 | H1FNT | cis | parietal | SCAN |
| rs11611327 | C12orf62 | cis | parietal | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
