Variant report
Variant | rs391324 |
---|---|
Chromosome Location | chr22:22015019-22015020 |
allele | A/C |
Outlinks | Ensembl   UCSC |
- TF binding region (count:9)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:9 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | POLR2A | chr22:22014483-22015820 | K562 | blood: | n/a | n/a |
2 | POLR2A | chr22:22013951-22015320 | K562 | blood: | n/a | n/a |
3 | POLR2A | chr22:22013287-22015703 | K562 | blood: | n/a | n/a |
4 | POLR2A | chr22:22013383-22015315 | H1-hESC | embryonic stem cell: | n/a | n/a |
5 | ZBTB7A | chr22:22014490-22015136 | K562 | blood: | n/a | chr22:22015008-22015016 |
6 | POLR2A | chr22:22014500-22015149 | ECC-1 | luminal epithelium: | n/a | n/a |
7 | POLR2A | chr22:22005031-22015259 | PFSK-1 | brain: | n/a | n/a |
8 | POLR2A | chr22:22009886-22015240 | PFSK-1 | brain: | n/a | n/a |
9 | NR2F2 | chr22:22013886-22015145 | K562 | blood: | n/a | n/a |
No data |
(count:4 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:22011842..22015116-chr22:22321184..22324268,3 | K562 | blood: | |
2 | chr22:22014103..22015156-chr22:22292881..22293545,3 | K562 | blood: | |
3 | chr22:22012894..22015753-chr22:22286806..22288838,2 | K562 | blood: | |
4 | chr22:22014013..22016208-chr22:22290767..22292528,2 | K562 | blood: |
(count:1 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-PPIL2-2 | chr22:22014991-22015310 | NONHSAT083706 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000272954 | TF binding region |
ENSG00000100034 | Chromatin interaction |
ENSG00000100038 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs11704601 | 1.00[AFR][1000 genomes] |
rs11705259 | 1.00[AFR][1000 genomes] |
rs1210390 | 0.92[ASN][1000 genomes] |
rs1210407 | 1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1210408 | 0.83[ASN][1000 genomes] |
rs1210412 | 1.00[AMR][1000 genomes];0.86[ASN][1000 genomes] |
rs131666 | 1.00[AFR][1000 genomes] |
rs34592211 | 1.00[AFR][1000 genomes] |
rs35113423 | 1.00[AFR][1000 genomes] |
rs35445502 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35844718 | 1.00[AFR][1000 genomes] |
rs366026 | 0.87[AMR][1000 genomes];0.89[ASN][1000 genomes] |
rs368351 | 0.95[ASN][1000 genomes] |
rs372108 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes] |
rs372150 | 0.96[ASN][1000 genomes] |
rs374659 | 0.96[ASN][1000 genomes] |
rs3747091 | 1.00[AFR][1000 genomes] |
rs379591 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs384262 | 0.83[ASN][1000 genomes] |
rs384422 | 0.90[ASN][1000 genomes] |
rs388113 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs390720 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs394073 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs395006 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs402225 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs402548 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs403865 | 0.85[ASN][1000 genomes] |
rs409153 | 0.81[ASN][1000 genomes] |
rs409796 | 0.99[ASN][1000 genomes] |
rs412596 | 0.93[ASN][1000 genomes] |
rs416661 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs425046 | 0.85[AMR][1000 genomes] |
rs428595 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs429623 | 0.97[ASN][1000 genomes] |
rs433704 | 0.83[ASN][1000 genomes] |
rs436570 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes] |
rs443845 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs447001 | 0.82[ASN][1000 genomes] |
rs451422 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes] |
rs452649 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes] |
rs459265 | 1.00[AFR][1000 genomes] |
rs5754787 | 0.87[AMR][1000 genomes] |
rs57965798 | 1.00[AFR][1000 genomes] |
rs710169 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs710170 | 1.00[AMR][1000 genomes] |
rs710173 | 0.87[AMR][1000 genomes] |
rs71314788 | 1.00[AFR][1000 genomes] |
rs861815 | 1.00[AMR][1000 genomes] |
rs861819 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs861822 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs9609947 | 1.00[AFR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv914458 | chr22:21747678-22070489 | Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 387 gene(s) | inside rSNPs | diseases |
2 | nsv482690 | chr22:21807513-22016791 | Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 374 gene(s) | inside rSNPs | diseases |
3 | esv1823866 | chr22:21928916-22131125 | Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 374 gene(s) | inside rSNPs | diseases |
4 | nsv948603 | chr22:21928916-22601814 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 422 gene(s) | inside rSNPs | diseases |
5 | nsv948902 | chr22:21928916-22657900 | Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 426 gene(s) | inside rSNPs | diseases |
6 | nsv1063962 | chr22:21939722-22934593 | Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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 regionlncRNAmiRNAmiRNA target site | 477 gene(s) | inside rSNPs | diseases |
7 | nsv1058617 | chr22:21939922-22934454 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 477 gene(s) | inside rSNPs | diseases |
8 | nsv529694 | chr22:21957411-22905068 | Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 474 gene(s) | inside rSNPs | diseases |
9 | nsv914464 | chr22:21964761-22039863 | Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 367 gene(s) | inside rSNPs | diseases |
10 | nsv914465 | chr22:21964761-22055280 | Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 368 gene(s) | inside rSNPs | diseases |
11 | nsv914466 | chr22:21964761-22057273 | Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 368 gene(s) | inside rSNPs | diseases |
12 | nsv531797 | chr22:21977700-22959729 | Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 476 gene(s) | inside rSNPs | diseases |
13 | nsv914467 | chr22:21982892-22055280 | Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 363 gene(s) | inside rSNPs | diseases |
14 | nsv914468 | chr22:21982892-22070489 | Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 365 gene(s) | inside rSNPs | diseases |
15 | esv3456722 | chr22:21993383-22019246 | Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 341 gene(s) | inside rSNPs | diseases |
16 | esv3456723 | chr22:21993399-22019258 | Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 341 gene(s) | inside rSNPs | diseases |
17 | nsv1066403 | chr22:22010822-22352262 | Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 51 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:22007600-22019800 | Weak transcription | Fetal Heart | heart |
2 | chr22:22012800-22019600 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
3 | chr22:22012800-22019600 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
4 | chr22:22012800-22019800 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
5 | chr22:22013000-22019400 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
6 | chr22:22013000-22019800 | Weak transcription | Primary T helper 17 cells PMA-I stimulated | -- |
7 | chr22:22013000-22019800 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
8 | chr22:22013200-22019400 | Weak transcription | Dnd41 | blood |
9 | chr22:22014400-22016600 | Strong transcription | Right Atrium | heart |
10 | chr22:22014800-22019400 | Weak transcription | K562 | blood |