Variant report
Variant | rs6583317 |
---|---|
Chromosome Location | chr3:196260352-196260353 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:45)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:45 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | YY1 | chr3:196260253-196260646 | H1-hESC | embryonic stem cell: | n/a | n/a |
2 | TEAD4 | chr3:196260204-196260617 | K562 | blood: | n/a | n/a |
3 | USF1 | chr3:196259913-196260483 | H1-hESC | embryonic stem cell: | n/a | n/a |
4 | RXRA | chr3:196260065-196260574 | H1-hESC | embryonic stem cell: | n/a | n/a |
5 | POU5F1 | chr3:196260086-196260403 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | RXRA | chr3:196260169-196260573 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | ZNF143 | chr3:196260099-196260554 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | TEAD4 | chr3:196260335-196260608 | K562 | blood: | n/a | n/a |
9 | GATA3 | chr3:196260088-196260545 | T-47D | breast: | n/a | n/a |
10 | GATA2 | chr3:196260193-196260560 | SH-SY5Y | brain: | n/a | n/a |
11 | ATF2 | chr3:196259971-196260565 | H1-hESC | embryonic stem cell: | n/a | n/a |
12 | SP1 | chr3:196259981-196260636 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | REST | chr3:196260316-196260623 | K562 | blood: | n/a | n/a |
14 | ZBTB7A | chr3:196260346-196260510 | K562 | blood: | n/a | n/a |
15 | MAX | chr3:196260071-196260495 | H1-hESC | embryonic stem cell: | n/a | n/a |
16 | NANOG | chr3:196260028-196260600 | H1-hESC | embryonic stem cell: | n/a | n/a |
17 | ATF2 | chr3:196259925-196260624 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | BCL11A | chr3:196260111-196260415 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | EP300 | chr3:196260001-196260659 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | REST | chr3:196260270-196260507 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | TEAD4 | chr3:196260027-196260716 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | GATA2 | chr3:196260177-196260637 | HUVEC | blood vessel: | n/a | n/a |
23 | JUND | chr3:196259997-196260541 | H1-hESC | embryonic stem cell: | n/a | n/a |
24 | YY1 | chr3:196260109-196260638 | H1-hESC | embryonic stem cell: | n/a | n/a |
25 | SP1 | chr3:196260008-196260494 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | CHD2 | chr3:196260172-196260585 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | NANOG | chr3:196260262-196260472 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | TAL1 | chr3:196260326-196260534 | K562 | blood: | n/a | n/a |
29 | SP4 | chr3:196260050-196260594 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | CEBPD | chr3:196260316-196260613 | K562 | blood: | n/a | n/a |
31 | MYC | chr3:196260346-196260555 | K562 | blood: | n/a | n/a |
32 | USF2 | chr3:196260006-196260409 | H1-hESC | embryonic stem cell: | n/a | n/a |
33 | USF1 | chr3:196259849-196260403 | H1-hESC | embryonic stem cell: | n/a | n/a |
34 | TEAD4 | chr3:196259943-196260662 | H1-hESC | embryonic stem cell: | n/a | n/a |
35 | MAX | chr3:196259994-196260491 | H1-hESC | embryonic stem cell: | n/a | n/a |
36 | POLR2A | chr3:196260279-196260532 | H1-hESC | embryonic stem cell: | n/a | n/a |
37 | CTBP2 | chr3:196260087-196260619 | H1-hESC | embryonic stem cell: | n/a | n/a |
38 | HDAC2 | chr3:196259967-196260566 | H1-hESC | embryonic stem cell: | n/a | n/a |
39 | POU5F1 | chr3:196260022-196260573 | H1-hESC | embryonic stem cell: | n/a | n/a |
40 | CEBPB | chr3:196259843-196260535 | H1-hESC | embryonic stem cell: | n/a | n/a |
41 | TCF12 | chr3:196260108-196260415 | H1-hESC | embryonic stem cell: | n/a | n/a |
42 | TCF12 | chr3:196259997-196260560 | H1-hESC | embryonic stem cell: | n/a | n/a |
43 | GTF2F1 | chr3:196260236-196260431 | H1-hESC | embryonic stem cell: | n/a | n/a |
44 | RCOR1 | chr3:196260352-196260481 | K562 | blood: | n/a | n/a |
45 | JUND | chr3:196260058-196260465 | H1-hESC | embryonic stem cell: | n/a | n/a |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:196259672..196262554-chr3:196667256..196669861,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000213358 | TF binding region |
ENSG00000225770 | TF binding region |
ENSG00000114503 | Chromatin interaction |
ENSG00000270170 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs11185544 | 0.95[ASN][1000 genomes] |
rs11706197 | 0.89[ASN][1000 genomes] |
rs11711594 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11711952 | 0.80[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs11714694 | 0.95[ASN][1000 genomes] |
rs11920455 | 0.80[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs12489885 | 0.89[ASN][1000 genomes] |
rs12494859 | 0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12495687 | 0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2054750 | 0.82[AMR][1000 genomes] |
rs2086891 | 0.95[ASN][1000 genomes] |
rs2341334 | 0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2880030 | 0.81[AMR][1000 genomes] |
rs3964310 | 0.95[ASN][1000 genomes] |
rs4488870 | 0.83[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs56144237 | 0.92[ASN][1000 genomes] |
rs57365032 | 0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62410583 | 0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6583318 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs66588136 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6765975 | 0.88[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs6775794 | 0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs6775806 | 0.88[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs6780633 | 0.88[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs6780856 | 0.85[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs6799694 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6799697 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs6803397 | 0.87[ASN][1000 genomes] |
rs6803596 | 0.82[ASN][1000 genomes] |
rs6807081 | 0.84[ASN][1000 genomes] |
rs6807097 | 0.87[ASN][1000 genomes] |
rs6810083 | 0.84[ASN][1000 genomes] |
rs73219653 | 0.95[ASN][1000 genomes] |
rs73219654 | 0.95[ASN][1000 genomes] |
rs73219660 | 0.95[ASN][1000 genomes] |
rs7614249 | 0.81[ASN][1000 genomes] |
rs7615547 | 0.87[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs7623111 | 0.88[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs7623224 | 0.89[ASN][1000 genomes] |
rs7626039 | 0.81[AMR][1000 genomes] |
rs7629990 | 0.87[ASN][1000 genomes] |
rs7651365 | 0.81[ASN][1000 genomes] |
rs9647412 | 0.85[AMR][1000 genomes] |
rs9811428 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9814342 | 0.84[ASN][1000 genomes] |
rs9818507 | 0.87[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9831225 | 0.82[AMR][1000 genomes] |
rs9839347 | 0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9840938 | 0.87[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9848622 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs9849530 | 0.84[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9853777 | 0.80[AMR][1000 genomes] |
rs9854347 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9858251 | 0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9868492 | 0.82[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs9870613 | 0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9880563 | 0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[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 | nsv1003194 | chr3:195960270-196342423 | Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 64 gene(s) | inside rSNPs | diseases |
2 | nsv536894 | chr3:195960270-196342423 | Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 64 gene(s) | inside rSNPs | diseases |
3 | nsv1003066 | chr3:196098763-196414159 | Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 55 gene(s) | inside rSNPs | diseases |
4 | esv2752687 | chr3:196147690-196286690 | Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
5 | nsv948681 | chr3:196148055-197007546 | Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 84 gene(s) | inside rSNPs | diseases |
6 | nsv1010483 | chr3:196210054-196319543 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
7 | nsv536896 | chr3:196210054-196319543 | Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
8 | nsv1014692 | chr3:196242249-196531824 | Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
9 | esv2763750 | chr3:196242261-196278366 | Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
10 | nsv878187 | chr3:196245603-196554790 | Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 47 gene(s) | inside rSNPs | diseases |
11 | nsv967108 | chr3:196255474-196263970 | Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:196255800-196260400 | Weak transcription | HepG2 | liver |
2 | chr3:196256200-196260800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
3 | chr3:196259600-196261200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
4 | chr3:196259800-196260600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
5 | chr3:196260000-196260400 | Bivalent Enhancer | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
6 | chr3:196260000-196260600 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
7 | chr3:196260200-196260400 | Bivalent Enhancer | Cortex derived primary cultured neurospheres | brain |
8 | chr3:196260200-196260600 | ZNF genes & repeats | Placenta | Placenta |
9 | chr3:196260200-196260600 | Flanking Active TSS | K562 | blood |
10 | chr3:196260200-196261200 | Enhancers | HUVEC | blood vessel |