Variant report
Variant | rs9599431 |
---|---|
Chromosome Location | chr13:69795992-69795993 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:33)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:33 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | MAZ | chr13:69795750-69796029 | K562 | blood: | n/a | n/a |
2 | TBP | chr13:69795492-69796965 | K562 | blood: | n/a | n/a |
3 | POLR2A | chr13:69795863-69796610 | K562 | blood: | n/a | n/a |
4 | ZMIZ1 | chr13:69795947-69796144 | K562 | blood: | n/a | n/a |
5 | YY1 | chr13:69795929-69796074 | K562 | blood: | n/a | n/a |
6 | PML | chr13:69795851-69796187 | K562 | blood: | n/a | n/a |
7 | POLR2A | chr13:69795852-69796256 | K562 | blood: | n/a | n/a |
8 | MAFF | chr13:69795737-69796051 | K562 | blood: | n/a | n/a |
9 | IRF1 | chr13:69795726-69796161 | K562 | blood: | n/a | n/a |
10 | PML | chr13:69795802-69796215 | K562 | blood: | n/a | n/a |
11 | POLR2A | chr13:69795708-69796988 | K562 | blood: | n/a | n/a |
12 | HEY1 | chr13:69795814-69796874 | K562 | blood: | n/a | n/a |
13 | JUND | chr13:69795848-69796109 | K562 | blood: | n/a | n/a |
14 | HEY1 | chr13:69795815-69796706 | K562 | blood: | n/a | n/a |
15 | GTF2F1 | chr13:69795914-69796053 | K562 | blood: | n/a | n/a |
16 | MYC | chr13:69795987-69796847 | K562 | blood: | n/a | n/a |
17 | POLR2A | chr13:69795806-69796583 | K562 | blood: | n/a | n/a |
18 | POLR2A | chr13:69795814-69796829 | K562 | blood: | n/a | n/a |
19 | TAF1 | chr13:69795894-69796142 | K562 | blood: | n/a | n/a |
20 | POLR2A | chr13:69795778-69796434 | K562 | blood: | n/a | n/a |
21 | POLR2A | chr13:69795786-69796951 | K562 | blood: | n/a | n/a |
22 | RCOR1 | chr13:69795648-69796177 | K562 | blood: | n/a | n/a |
23 | POLR2A | chr13:69795863-69796254 | K562 | blood: | n/a | n/a |
24 | CEBPD | chr13:69795817-69796165 | K562 | blood: | n/a | n/a |
25 | GTF2B | chr13:69795853-69796053 | K562 | blood: | n/a | n/a |
26 | NFYB | chr13:69795741-69796015 | K562 | blood: | n/a | n/a |
27 | IRF1 | chr13:69795905-69796139 | K562 | blood: | n/a | n/a |
28 | POLR2A | chr13:69795826-69796226 | K562 | blood: | n/a | n/a |
29 | POLR2A | chr13:69795849-69796252 | K562 | blood: | n/a | n/a |
30 | EP300 | chr13:69795806-69796108 | GM12878 | blood: | n/a | n/a |
31 | TAF1 | chr13:69795892-69796127 | K562 | blood: | n/a | n/a |
32 | POLR2A | chr13:69795449-69796678 | K562 | blood: | n/a | n/a |
33 | MAFK | chr13:69795740-69796027 | K562 | blood: | n/a | n/a |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr13:69795398..69798188-chr13:69884200..69887047,2 | K562 | blood: |
(count:1 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-BORA-6 | chr13:69795972-69796802 | NONHSAT034241 |
No data |
No data |
Variant related genes | Relation type |
---|---|
LINC00383 | TF binding region |
ENSG00000235221 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs1446380 | 0.81[ASN][1000 genomes] |
rs2121293 | 0.90[ASN][1000 genomes] |
rs34456127 | 0.88[ASN][1000 genomes] |
rs4389038 | 0.87[ASN][1000 genomes] |
rs4884835 | 0.83[ASN][1000 genomes] |
rs58043375 | 0.81[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7139612 | 0.90[ASN][1000 genomes] |
rs7358906 | 0.81[ASN][1000 genomes] |
rs921059 | 0.88[ASN][1000 genomes] |
rs9317793 | 0.87[ASN][1000 genomes] |
rs9317797 | 0.88[ASN][1000 genomes] |
rs9541824 | 0.82[ASN][1000 genomes] |
rs9541825 | 0.83[ASN][1000 genomes] |
rs9564544 | 0.83[ASN][1000 genomes] |
rs9564545 | 0.81[ASN][1000 genomes] |
rs9564552 | 0.82[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs9572111 | 0.81[ASN][1000 genomes] |
rs9572112 | 0.82[ASN][1000 genomes] |
rs9572113 | 0.82[ASN][1000 genomes] |
rs9572117 | 0.84[ASN][1000 genomes] |
rs9572123 | 0.92[ASN][1000 genomes] |
rs9572127 | 0.90[ASN][1000 genomes] |
rs9572128 | 0.88[ASN][1000 genomes] |
rs9599432 | 0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1049303 | chr13:69238676-69923558 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
2 | nsv1038918 | chr13:69251052-69919763 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
3 | nsv541829 | chr13:69251052-69919763 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
4 | nsv900465 | chr13:69568612-69812252 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
5 | nsv900473 | chr13:69652578-69812252 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
6 | nsv900478 | chr13:69759676-69812252 | Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
7 | esv3525265 | chr13:69794000-69846365 | Weak transcription Enhancers Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
8 | esv3525266 | chr13:69794000-69846365 | Weak transcription Enhancers Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:69795400-69798200 | Active TSS | K562 | blood |