Variant report
Variant | rs213387 |
---|---|
Chromosome Location | chr3:60308293-60308294 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10510839 | 0.93[JPT][hapmap] |
rs10866035 | 0.82[EUR][1000 genomes] |
rs11130766 | 0.93[JPT][hapmap] |
rs12494639 | 0.93[JPT][hapmap] |
rs12498046 | 0.93[JPT][hapmap] |
rs1546830 | 0.92[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes] |
rs1569348 | 0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1569349 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1569352 | 0.96[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes] |
rs1882898 | 0.96[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1882899 | 0.88[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1882900 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1882901 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs213383 | 0.88[ASN][1000 genomes] |
rs213384 | 1.00[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes] |
rs213385 | 0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs34717494 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs4679476 | 0.81[CEU][hapmap] |
rs6446120 | 0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs6762886 | 0.81[CHD][hapmap] |
rs6764498 | 0.81[CEU][hapmap] |
rs6773826 | 0.92[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes] |
rs6799964 | 0.80[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap] |
rs727476 | 0.93[JPT][hapmap] |
rs926143 | 0.81[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs963685 | 0.92[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes] |
rs9815526 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs9837070 | 0.86[JPT][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1014983 | chr3:59884024-60558331 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
2 | nsv590387 | chr3:59890976-60481459 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
3 | nsv1009971 | chr3:60070974-60397331 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
4 | nsv529602 | chr3:60088353-60830769 | Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
5 | nsv1010969 | chr3:60124962-60425297 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
6 | esv2422232 | chr3:60192201-60334555 | Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
7 | nsv876844 | chr3:60256485-60362565 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
8 | nsv876845 | chr3:60256485-60367607 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
9 | nsv1001134 | chr3:60262617-60344190 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
10 | nsv590394 | chr3:60289140-60388900 | Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
11 | nsv999794 | chr3:60301059-60332871 | Enhancers Weak transcription Genic enhancers Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
12 | nsv1011408 | chr3:60307954-60417143 | Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:60296000-60312200 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
2 | chr3:60302600-60309200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
3 | chr3:60302600-60309200 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
4 | chr3:60302600-60311400 | Weak transcription | Fetal Lung | lung |
5 | chr3:60307400-60309200 | Enhancers | Liver | Liver |
6 | chr3:60308200-60311400 | Weak transcription | Fetal Intestine Large | intestine |