Variant report
Variant | rs2349414 |
---|---|
Chromosome Location | chr2:49226846-49226847 |
allele | G/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:49226004..49228152-chr2:49232900..49234588,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs12713028 | 0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12713029 | 0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12713030 | 0.98[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12713031 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs13008674 | 0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1808310 | 0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs1922469 | 0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1922470 | 0.92[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1922471 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2349412 | 0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2349413 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2882157 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4953655 | 0.91[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6732220 | 0.86[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6733819 | 0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7560175 | 0.96[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7571781 | 0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7585723 | 0.92[ASN][1000 genomes] |
rs7591844 | 0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7594633 | 0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7599310 | 0.97[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs887944 | 0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs917941 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs917942 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs917944 | 0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs917945 | 0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1002793 | chr2:48771220-49466550 | ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
2 | nsv1004965 | chr2:48796170-49443587 | Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
3 | nsv535684 | chr2:48796170-49443587 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
4 | nsv498119 | chr2:48808834-49422647 | Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
5 | nsv998864 | chr2:49015878-49230000 | Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
6 | nsv874007 | chr2:49102526-49321164 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 3 gene(s) | inside rSNPs | diseases |
7 | nsv834003 | chr2:49131673-49312273 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 2 gene(s) | inside rSNPs | diseases |
8 | esv2751895 | chr2:49178349-49271417 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS | TF binding regionChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
9 | nsv430980 | chr2:49202449-49227449 | Enhancers Flanking Active TSS Weak transcription | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:49222000-49227400 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
2 | chr2:49226800-49227200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |