Variant report
| Variant | rs41418447 |
|---|---|
| Chromosome Location | chr1:197690971-197690972 |
| allele | A/C |
| 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 | chr1:197690259..197692454-chr1:197742393..197744676,2 | MCF-7 | breast: | |
| 2 | chr1:197685201..197688463-chr1:197690125..197692928,4 | K562 | blood: | |
| 3 | chr1:197686781..197688463-chr1:197690334..197692928,2 | K562 | blood: | |
| 4 | chr1:197685915..197688050-chr1:197690516..197693253,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000213047 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:45)
| rs_ID | r2[population] |
|---|---|
| rs1035320 | 1.00[ASN][1000 genomes] |
| rs10494759 | 1.00[ASN][1000 genomes] |
| rs10754226 | 1.00[ASN][1000 genomes] |
| rs10801610 | 1.00[ASN][1000 genomes] |
| rs10801611 | 1.00[ASN][1000 genomes] |
| rs10801615 | 1.00[ASN][1000 genomes] |
| rs10801618 | 1.00[ASN][1000 genomes] |
| rs10922312 | 1.00[ASN][1000 genomes] |
| rs11801596 | 1.00[ASN][1000 genomes] |
| rs11803693 | 1.00[ASN][1000 genomes] |
| rs11803984 | 1.00[ASN][1000 genomes] |
| rs11804036 | 1.00[ASN][1000 genomes] |
| rs11804076 | 1.00[ASN][1000 genomes] |
| rs11805085 | 1.00[ASN][1000 genomes] |
| rs11805260 | 1.00[ASN][1000 genomes] |
| rs11806071 | 1.00[ASN][1000 genomes] |
| rs11806604 | 1.00[ASN][1000 genomes] |
| rs11808449 | 1.00[ASN][1000 genomes] |
| rs11809692 | 1.00[AMR][1000 genomes] |
| rs11810052 | 0.86[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12062450 | 1.00[ASN][1000 genomes] |
| rs12079525 | 1.00[ASN][1000 genomes] |
| rs1362940 | 1.00[ASN][1000 genomes] |
| rs1421388 | 1.00[ASN][1000 genomes] |
| rs1421398 | 1.00[ASN][1000 genomes] |
| rs16841843 | 0.82[AFR][1000 genomes] |
| rs16841846 | 0.82[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs16841889 | 0.86[MKK][hapmap] |
| rs16841893 | 0.91[MKK][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs16841969 | 1.00[ASN][1000 genomes] |
| rs16841983 | 1.00[ASN][1000 genomes] |
| rs1862011 | 1.00[ASN][1000 genomes] |
| rs2047541 | 1.00[ASN][1000 genomes] |
| rs2147771 | 1.00[ASN][1000 genomes] |
| rs301505 | 1.00[ASN][1000 genomes] |
| rs35432263 | 1.00[ASN][1000 genomes] |
| rs3902061 | 1.00[ASN][1000 genomes] |
| rs4427436 | 1.00[ASN][1000 genomes] |
| rs4915243 | 1.00[ASN][1000 genomes] |
| rs4915244 | 1.00[ASN][1000 genomes] |
| rs4915548 | 1.00[ASN][1000 genomes] |
| rs6428409 | 1.00[ASN][1000 genomes] |
| rs6662893 | 1.00[ASN][1000 genomes] |
| rs6678240 | 1.00[ASN][1000 genomes] |
| rs7543631 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv873074 | chr1:197464448-197698103 | Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 2 | nsv873075 | chr1:197464448-197714851 | Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 3 | nsv437263 | chr1:197599030-197722240 | Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 4 | nsv427908 | chr1:197611569-197767362 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 5 | nsv873077 | chr1:197615391-197698103 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers | TF binding regionChromatin interactive region | 8 gene(s) | inside rSNPs | diseases |
| 6 | nsv548873 | chr1:197664905-197694037 | Enhancers ZNF genes & repeats Weak transcription Active TSS | Chromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:197665800-197693600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr1:197688000-197692200 | Weak transcription | Fetal Intestine Small | intestine |
| 3 | chr1:197688000-197707400 | Weak transcription | Left Ventricle | heart |
| 4 | chr1:197688600-197694200 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
| 5 | chr1:197690000-197694200 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
| 6 | chr1:197690400-197692200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
