Variant report
Variant | rs2569743 |
---|---|
Chromosome Location | chr19:51374237-51374238 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:12)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr19:51373524-51374240 | SK-N-SH | brain: | n/a | chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373728-51373744 chr19:51373916-51373926 chr19:51373908-51373929 |
2 | CTCF | chr19:51373550-51374369 | A549 | lung: | n/a | chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373728-51373744 chr19:51373916-51373926 chr19:51373908-51373929 |
3 | RAD21 | chr19:51373549-51374248 | SK-N-SH | brain: | n/a | chr19:51373915-51373925 chr19:51373911-51373930 |
4 | SETDB1 | chr19:51373664-51374317 | K562 | blood: | n/a | chr19:51373740-51373749 |
5 | JUN | chr19:51372866-51374355 | K562 | blood: | n/a | chr19:51373837-51373850 chr19:51373841-51373850 |
6 | CREB1 | chr19:51373429-51374296 | K562 | blood: | n/a | chr19:51373839-51373852 |
No data |
(count:12 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:51303704..51306185-chr19:51373080..51375734,4 | K562 | blood: | |
2 | chr19:51339489..51342221-chr19:51372439..51375548,3 | K562 | blood: | |
3 | chr19:51306448..51310717-chr19:51372415..51375235,4 | K562 | blood: | |
4 | chr19:51304876..51308314-chr19:51372660..51375800,4 | MCF-7 | breast: | |
5 | chr19:51372696..51375845-chr19:51379331..51383690,4 | K562 | blood: | |
6 | chr19:51373828..51375364-chr19:51376061..51378763,2 | K562 | blood: | |
7 | chr19:51303704..51305752-chr19:51372094..51375734,4 | K562 | blood: | |
8 | chr19:51292849..51296626-chr19:51372637..51375537,3 | K562 | blood: | |
9 | chr19:51297152..51303261-chr19:51371696..51377038,8 | K562 | blood: | |
10 | chr19:51306202..51308468-chr19:51372838..51375377,2 | K562 | blood: | |
11 | chr19:51296429..51299323-chr19:51371370..51374659,5 | K562 | blood: | |
12 | chr19:51374203..51378024-chr19:51378917..51381093,3 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
KLK2 | TF binding region |
ENSG00000142513 | Chromatin interaction |
ENSG00000174562 | Chromatin interaction |
ENSG00000267880 | Chromatin interaction |
ENSG00000221241 | Chromatin interaction |
ENSG00000221381 | Chromatin interaction |
ENSG00000268375 | Chromatin interaction |
ENSG00000167751 | Chromatin interaction |
ENSG00000220988 | Chromatin interaction |
ENSG00000167747 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs1053972 | 0.80[ASN][1000 genomes] |
rs11084034 | 0.95[JPT][hapmap];0.82[ASN][1000 genomes] |
rs11084038 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11084039 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs11670728 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12984214 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12984666 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2271095 | 0.91[JPT][hapmap] |
rs2569738 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs2569741 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2569744 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2739477 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3760728 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3760730 | 0.88[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62115062 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6998 | 0.95[JPT][hapmap];0.86[ASN][1000 genomes] |
rs7260115 | 0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1060760 | chr19:50883425-51463712 | ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 99 gene(s) | inside rSNPs | diseases |
2 | nsv1058177 | chr19:50984774-51463712 | Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 84 gene(s) | inside rSNPs | diseases |
3 | nsv2531 | chr19:51333628-51378597 | Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
4 | esv2763208 | chr19:51361757-51377163 | ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:51373400-51374400 | Flanking Active TSS | K562 | blood |