Variant report
Variant | rs1528030 |
---|---|
Chromosome Location | chr2:182550959-182550960 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:182550098..182552555-chr2:182552964..182555197,2 | K562 | blood: | |
2 | chr2:182544304..182548457-chr2:182549208..182552987,3 | MCF-7 | breast: | |
3 | chr2:182546719..182548427-chr2:182548447..182551068,2 | K562 | blood: | |
4 | chr2:182543026..182545649-chr2:182549552..182552304,2 | K562 | blood: | |
5 | chr2:182541170..182543258-chr2:182550470..182553269,2 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ITGA4-1 | chr2:182546597-182554169 | NONHSAT075881 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000188452 | Chromatin interaction |
ENSG00000162992 | Chromatin interaction |
ENSG00000234595 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs1000764 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap] |
rs10207791 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs10930976 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap] |
rs13416231 | 0.92[ASN][1000 genomes] |
rs2583015 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs2583017 | 0.83[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs2696345 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
rs2696347 | 0.83[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs2696351 | 0.87[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs2950648 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs4666794 | 0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs4666795 | 0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs59476732 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1005870 | chr2:181968637-182921439 | Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
2 | nsv536063 | chr2:181968637-182921439 | Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
3 | nsv834477 | chr2:182438121-182593527 | Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:182550400-182551200 | Enhancers | Pancreatic Islets | Pancreatic Islet |