Variant report
Variant | rs1055876 |
---|---|
Chromosome Location | chr12:32536200-32536201 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- 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 | chr12:32534948..32536924-chr12:32539453..32542087,2 | K562 | blood: | |
2 | chr12:32534188..32536796-chr12:32561079..32564068,2 | MCF-7 | breast: | |
3 | chr12:32535707..32537411-chr12:32551451..32553487,2 | MCF-7 | breast: | |
4 | chr12:32534459..32536924-chr12:32539453..32542230,3 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-BICD1-1 | chr12:32534220-32536567 | NONHSAT027609 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000139132 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs11051969 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11051970 | 0.94[EUR][1000 genomes] |
rs11051973 | 0.96[AFR][1000 genomes];0.95[ASN][1000 genomes] |
rs11051975 | 0.96[AFR][1000 genomes] |
rs11051976 | 0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs11051985 | 0.83[ASN][1000 genomes] |
rs11051986 | 0.84[ASN][1000 genomes] |
rs11051987 | 0.83[ASN][1000 genomes] |
rs11051988 | 0.84[ASN][1000 genomes] |
rs11051989 | 0.83[ASN][1000 genomes] |
rs11051991 | 0.82[ASN][1000 genomes] |
rs11051992 | 0.81[ASN][1000 genomes] |
rs12227991 | 0.96[AFR][1000 genomes];0.94[ASN][1000 genomes] |
rs12228004 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12229856 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1500874 | 0.82[CEU][hapmap] |
rs16919774 | 0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes] |
rs1872829 | 0.95[CEU][hapmap];0.94[EUR][1000 genomes] |
rs2270786 | 0.84[CHB][hapmap];0.95[JPT][hapmap] |
rs2651360 | 0.82[CEU][hapmap] |
rs2651362 | 0.82[CEU][hapmap] |
rs2651363 | 0.82[CEU][hapmap] |
rs2651369 | 0.85[EUR][1000 genomes] |
rs2728671 | 0.83[CEU][hapmap] |
rs4540912 | 0.82[CEU][hapmap] |
rs4931013 | 0.83[ASN][1000 genomes] |
rs4931623 | 0.83[ASN][1000 genomes] |
rs56670459 | 0.94[ASN][1000 genomes] |
rs6488050 | 1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6488051 | 0.96[CEU][hapmap];0.93[EUR][1000 genomes] |
rs7132235 | 0.96[AFR][1000 genomes];0.97[ASN][1000 genomes] |
rs7297381 | 0.82[ASN][1000 genomes] |
rs73081911 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs73084099 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs73084101 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs73086036 | 0.82[ASN][1000 genomes] |
rs73086040 | 0.82[ASN][1000 genomes] |
rs7309706 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7313432 | 0.81[ASN][1000 genomes] |
rs950079 | 0.83[CEU][hapmap] |
rs950080 | 0.83[CEU][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv531960 | chr12:32257285-32775277 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
2 | esv2751096 | chr12:32280340-32702784 | Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
3 | nsv558171 | chr12:32287259-32559693 | Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
4 | nsv469346 | chr12:32531220-32587465 | Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
5 | nsv558188 | chr12:32531220-32587465 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
6 | esv1815828 | chr12:32533730-32537488 | Weak transcription Enhancers | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
7 | nsv1054191 | chr12:32534619-32733066 | Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
8 | nsv541455 | chr12:32534619-32733066 | Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:32532600-32543400 | Weak transcription | H1 Cell Line | embryonic stem cell |