Variant report
Variant | rs72697916 |
---|---|
Chromosome Location | chr4:165834908-165834909 |
allele | C/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:51)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr4:165834709-165834940 | K562 | blood: | n/a | n/a |
2 | CTCF | chr4:165834732-165834957 | K562 | blood: | n/a | n/a |
3 | CTCF | chr4:165834778-165834913 | GM19239 | blood: | n/a | n/a |
4 | CTCF | chr4:165834711-165834919 | H1-hESC | embryonic stem cell: | n/a | n/a |
5 | CTCF | chr4:165834760-165834910 | GM12875 | blood: | n/a | n/a |
6 | CTCF | chr4:165834762-165834944 | Medullo | brain: | n/a | n/a |
7 | CTCF | chr4:165834760-165834910 | HAc | cerebellar: | n/a | n/a |
8 | CEBPB | chr4:165834769-165834969 | K562 | blood: | n/a | n/a |
9 | RAD21 | chr4:165834671-165834991 | HepG2 | liver: | n/a | n/a |
10 | CTCF | chr4:165834880-165835030 | GM12868 | blood: | n/a | n/a |
11 | CTCF | chr4:165834780-165834930 | GM06990 | blood: | n/a | n/a |
12 | CTCF | chr4:165834794-165834943 | GM13977 | blood: | n/a | n/a |
13 | CTCF | chr4:165834718-165835018 | GM12878 | blood: | n/a | n/a |
14 | CTCF | chr4:165834772-165834945 | MCF-7 | breast: | n/a | n/a |
15 | RAD21 | chr4:165834690-165834920 | GM12878 | blood: | n/a | n/a |
16 | CTCF | chr4:165834780-165834930 | GM12878 | blood: | n/a | n/a |
17 | CTCF | chr4:165834780-165834930 | GM12872 | blood: | n/a | n/a |
18 | RAD21 | chr4:165834704-165835017 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | RAD21 | chr4:165834713-165834922 | HepG2 | liver: | n/a | n/a |
20 | RAD21 | chr4:165834626-165835030 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | CTCF | chr4:165834860-165835010 | GM12866 | blood: | n/a | n/a |
22 | CTCF | chr4:165834788-165834928 | GM10248 | blood: | n/a | n/a |
23 | CTCF | chr4:165834780-165834930 | GM12864 | blood: | n/a | n/a |
24 | CTCF | chr4:165834773-165834930 | LNCaP | prostate: | n/a | n/a |
25 | RAD21 | chr4:165834578-165835097 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | CTCF | chr4:165834780-165834930 | WERI-Rb-1 | eye: | n/a | n/a |
27 | CTCF | chr4:165834752-165834968 | MCF-7 | breast: | n/a | n/a |
28 | CTCF | chr4:165834814-165834956 | LNCaP | prostate: | n/a | n/a |
29 | CTCF | chr4:165834880-165835030 | RPTEC | kidney: | n/a | n/a |
30 | CTCF | chr4:165834747-165834912 | Hela-S3 | cervix: | n/a | n/a |
31 | CTCF | chr4:165834763-165834933 | Gliobla | brain: | n/a | n/a |
32 | CTCF | chr4:165834760-165834910 | HRPEpiC | eye: | n/a | n/a |
33 | CTCF | chr4:165834780-165834930 | GM12874 | blood: | n/a | n/a |
34 | SMC3 | chr4:165834721-165835000 | GM12878 | blood: | n/a | n/a |
35 | CTCF | chr4:165834760-165834910 | HEK293 | kidney: | n/a | n/a |
36 | RAD21 | chr4:165834687-165834937 | GM12878 | blood: | n/a | n/a |
37 | CTCF | chr4:165834779-165834909 | HepG2 | liver: | n/a | n/a |
38 | CTCF | chr4:165834774-165834953 | GM10266 | blood: | n/a | n/a |
39 | CTCF | chr4:165834800-165834950 | GM12872 | blood: | n/a | n/a |
40 | RAD21 | chr4:165834772-165834933 | HepG2 | liver: | n/a | n/a |
41 | CTCF | chr4:165834760-165834910 | Caco-2 | colon: | n/a | n/a |
42 | CTCF | chr4:165834772-165834937 | GM20000 | blood: | n/a | n/a |
43 | CTCF | chr4:165834710-165834999 | H1-hESC | embryonic stem cell: | n/a | n/a |
44 | CEBPB | chr4:165834764-165834970 | HepG2 | liver: | n/a | n/a |
45 | CTCF | chr4:165834780-165834930 | GM12865 | blood: | n/a | n/a |
46 | CTCF | chr4:165834760-165834910 | GM12878 | blood: | n/a | n/a |
47 | CTCF | chr4:165834748-165834970 | GM12878 | blood: | n/a | n/a |
48 | CTCF | chr4:165834737-165834964 | K562 | blood: | n/a | n/a |
49 | CTCF | chr4:165834880-165835030 | GM06990 | blood: | n/a | n/a |
50 | RAD21 | chr4:165834733-165834997 | GM12878 | blood: | n/a | n/a |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:165833603..165835632-chr4:165838442..165840941,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
TRIM60P14 | TF binding region |
rs_ID | r2[population] |
---|---|
rs10002643 | 0.82[ASN][1000 genomes] |
rs10014066 | 0.82[ASN][1000 genomes] |
rs12505948 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs12505979 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12505996 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12506957 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12507070 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12507485 | 0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12511116 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs13106523 | 0.82[ASN][1000 genomes] |
rs17487197 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs17487218 | 1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs17584342 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs28415564 | 0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs28440034 | 0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs28611087 | 0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs34745909 | 0.82[ASN][1000 genomes] |
rs55973336 | 1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs57749446 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs58840274 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs59997868 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs6856614 | 0.82[ASN][1000 genomes] |
rs6856935 | 0.82[ASN][1000 genomes] |
rs72695876 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs72695877 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs72695879 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs72695881 | 0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs72695882 | 0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs72695883 | 0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs72695884 | 0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs72695888 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs72695894 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs72695895 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs72695897 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs72695901 | 1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs72695902 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs72697903 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs72697904 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs72697906 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs72697908 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs72697911 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs72697914 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs72697920 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv461821 | chr4:165402309-165859951 | Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
2 | nsv596037 | chr4:165402309-165859951 | Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
3 | nsv1019150 | chr4:165505585-165907924 | Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
4 | nsv1026152 | chr4:165622244-166027447 | Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
5 | nsv537336 | chr4:165622244-166027447 | Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
6 | esv2760864 | chr4:165771791-165835433 | Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
7 | nsv1022210 | chr4:165792630-166251612 | Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 46 gene(s) | inside rSNPs | diseases |
8 | nsv537337 | chr4:165792630-166251612 | Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 46 gene(s) | inside rSNPs | diseases |
9 | nsv880382 | chr4:165793001-165964290 | ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | diseases |
10 | esv2757965 | chr4:165801816-165976350 | Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
11 | esv2759299 | chr4:165801816-165976350 | Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
12 | nsv528686 | chr4:165814359-165930168 | Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 22 gene(s) | inside rSNPs | diseases |
13 | esv1797417 | chr4:165826948-165844648 | Enhancers Weak transcription | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
14 | nsv967807 | chr4:165833967-165843736 | Weak transcription Enhancers | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:165834800-165835600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |