Variant report
Variant | rs2675058 |
---|---|
Chromosome Location | chr2:183978549-183978550 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:7)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:7 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | HCFC1 | chr2:183978405-183978586 | K562 | blood: | n/a | n/a |
2 | JUND | chr2:183978358-183978877 | K562 | blood: | n/a | n/a |
3 | MAZ | chr2:183978423-183978772 | K562 | blood: | n/a | n/a |
4 | UBTF | chr2:183978512-183978653 | K562 | blood: | n/a | n/a |
5 | RCOR1 | chr2:183978416-183978808 | K562 | blood: | n/a | n/a |
6 | MYC | chr2:183978540-183978753 | K562 | blood: | n/a | n/a |
7 | EP300 | chr2:183977379-183978770 | K562 | blood: | n/a | chr2:183978740-183978754 |
No data |
(count:3 , 50 per page) page:
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
NUP35 | TF binding region |
ENSG00000061676 | Chromatin interaction |
ENSG00000163002 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10175324 | 0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10179245 | 0.95[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10181735 | 0.95[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10191080 | 0.95[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10460378 | 1.00[JPT][hapmap];0.87[ASN][1000 genomes] |
rs11883456 | 1.00[JPT][hapmap];0.87[ASN][1000 genomes] |
rs12328779 | 0.85[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12612008 | 1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
rs13035624 | 1.00[JPT][hapmap] |
rs1473617 | 1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
rs1606990 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs16824004 | 1.00[JPT][hapmap] |
rs2247840 | 1.00[YRI][hapmap];0.83[AFR][1000 genomes] |
rs2675118 | 1.00[JPT][hapmap];0.87[ASN][1000 genomes] |
rs2705730 | 0.83[GIH][hapmap];1.00[JPT][hapmap] |
rs3748880 | 1.00[JPT][hapmap] |
rs4465737 | 0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.80[AFR][1000 genomes] |
rs4666888 | 0.95[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes] |
rs6750185 | 1.00[JPT][hapmap];0.86[LWK][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes] |
rs7569854 | 1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
rs7603240 | 1.00[JPT][hapmap] |
rs7608545 | 1.00[JPT][hapmap];0.89[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1009882 | chr2:183213152-184171519 | Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 35 gene(s) | inside rSNPs | diseases |
2 | nsv1005281 | chr2:183803173-184093877 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers 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 | nsv875485 | chr2:183827018-184195265 | Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
4 | nsv1010799 | chr2:183855680-184244721 | Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
5 | nsv536072 | chr2:183855680-184244721 | Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
6 | nsv1003519 | chr2:183885544-184015868 | Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
7 | esv2763287 | chr2:183939173-184037893 | Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
8 | esv3356302 | chr2:183962495-183989877 | Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | n/a |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:183954600-183988400 | Weak transcription | Aorta | Aorta |
2 | chr2:183978200-183979800 | Enhancers | K562 | blood |