Variant report
Variant | rs12680638 |
---|---|
Chromosome Location | chr8:104498152-104498153 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:37)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:37 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | REST | chr8:104497954-104498425 | MCF-7 | breast: | n/a | chr8:104498045-104498053 |
2 | TEAD4 | chr8:104498049-104498357 | A549 | lung: | n/a | n/a |
3 | REST | chr8:104497908-104498350 | A549 | lung: | n/a | chr8:104498045-104498053 |
4 | REST | chr8:104497964-104498355 | Hela-S3 | cervix: | n/a | chr8:104498045-104498053 |
5 | FOS | chr8:104497780-104498180 | MCF10A-Er-Src | breast: | n/a | n/a |
6 | REST | chr8:104497932-104498410 | PANC-1 | pancreas: | n/a | chr8:104498045-104498053 |
7 | REST | chr8:104497791-104498502 | HL-60 | blood: | n/a | chr8:104498045-104498053 |
8 | REST | chr8:104498012-104498336 | SK-N-SH | brain: | n/a | chr8:104498045-104498053 |
9 | REST | chr8:104498115-104498220 | HepG2 | liver: | n/a | n/a |
10 | REST | chr8:104497996-104498279 | K562 | blood: | n/a | chr8:104498045-104498053 |
11 | REST | chr8:104498057-104498256 | U87 | brain: | n/a | n/a |
12 | REST | chr8:104497981-104498272 | SK-N-SH | brain: | n/a | chr8:104498045-104498053 |
13 | REST | chr8:104497994-104498413 | HCT-116 | colon: | n/a | chr8:104498045-104498053 |
14 | REST | chr8:104497869-104498577 | MCF-7 | breast: | n/a | chr8:104498045-104498053 |
15 | REST | chr8:104498034-104498280 | HepG2 | liver: | n/a | chr8:104498045-104498053 |
16 | REST | chr8:104497856-104498407 | PFSK-1 | brain: | n/a | chr8:104498045-104498053 |
17 | E2F4 | chr8:104497873-104498207 | MCF10A-Er-Src | breast: | n/a | n/a |
18 | REST | chr8:104497970-104498306 | H1-hESC | embryonic stem cell: | n/a | chr8:104498045-104498053 |
19 | REST | chr8:104497944-104498316 | PFSK-1 | brain: | n/a | chr8:104498045-104498053 |
20 | REST | chr8:104498066-104498269 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | REST | chr8:104497988-104498378 | U87 | brain: | n/a | chr8:104498045-104498053 |
22 | FOSL1 | chr8:104497729-104498271 | HCT-116 | colon: | n/a | n/a |
23 | REST | chr8:104497960-104498464 | ECC-1 | luminal epithelium: | n/a | chr8:104498045-104498053 |
24 | REST | chr8:104498022-104498387 | HL-60 | blood: | n/a | chr8:104498045-104498053 |
25 | REST | chr8:104497918-104498340 | HCT-116 | colon: | n/a | chr8:104498045-104498053 |
26 | REST | chr8:104497977-104498312 | Hela-S3 | cervix: | n/a | chr8:104498045-104498053 |
27 | REST | chr8:104498098-104498243 | GM12878 | blood: | n/a | n/a |
28 | REST | chr8:104497957-104498280 | GM12878 | blood: | n/a | chr8:104498045-104498053 |
29 | REST | chr8:104497870-104498525 | ECC-1 | luminal epithelium: | n/a | chr8:104498045-104498053 |
30 | FOS | chr8:104497925-104498240 | MCF10A-Er-Src | breast: | n/a | n/a |
31 | REST | chr8:104498083-104498219 | GM12878 | blood: | n/a | n/a |
32 | REST | chr8:104498015-104498323 | U87 | brain: | n/a | chr8:104498045-104498053 |
33 | FOS | chr8:104497810-104498157 | MCF10A-Er-Src | breast: | n/a | n/a |
34 | REST | chr8:104497942-104498316 | HepG2 | liver: | n/a | chr8:104498045-104498053 |
35 | FOS | chr8:104497780-104498633 | MCF10A-Er-Src | breast: | n/a | n/a |
36 | REST | chr8:104498044-104498310 | PFSK-1 | brain: | n/a | chr8:104498045-104498053 |
37 | REST | chr8:104498099-104498241 | PFSK-1 | brain: | n/a | n/a |
No data |
(count:2 , 50 per page) page:
1
(count:1 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-SLC25A32-3 | chr8:104497414-104502077 | NONHSAT128193 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000271830 | TF binding region |
rs_ID | r2[population] |
---|---|
rs10097034 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10097208 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10097250 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs10099086 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs10106671 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10505047 | 0.85[ASN][1000 genomes] |
rs10955317 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10955318 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10955323 | 0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs11776639 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs11783518 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs11784011 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12114365 | 0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12544166 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12544298 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12547300 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12550530 | 0.91[ASN][1000 genomes] |
rs12550536 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs12678622 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12681543 | 0.85[ASN][1000 genomes] |
rs12682484 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13248060 | 0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13250282 | 0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs13264879 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13274021 | 0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs1426297 | 0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs17230713 | 0.93[ASN][1000 genomes] |
rs17805787 | 0.93[ASN][1000 genomes] |
rs1820444 | 0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs1895892 | 0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs1895895 | 0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs1898254 | 0.93[ASN][1000 genomes] |
rs2059587 | 0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs2080609 | 0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2080610 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2111493 | 0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs2118059 | 0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2160714 | 0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs28802649 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs28806247 | 0.87[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs28890031 | 0.88[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2892596 | 0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs34458961 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35101283 | 0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35442232 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35667758 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35745796 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs36056848 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs36093974 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4467911 | 0.85[ASN][1000 genomes] |
rs4517090 | 0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs4641028 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4734711 | 0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4734712 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4734714 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs4734716 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4734717 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4734719 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs61247429 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6468875 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6468883 | 0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs68184585 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6985834 | 0.86[EUR][1000 genomes] |
rs6988627 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs6991802 | 0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs6993717 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6999864 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7001190 | 0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs7011865 | 0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs71520819 | 0.81[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs72675499 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs72677619 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7813485 | 0.91[ASN][1000 genomes] |
rs7817860 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7824905 | 0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs7842405 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7843512 | 0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv429931 | chr8:104097396-104878014 | Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 82 gene(s) | inside rSNPs | diseases |
2 | nsv1020476 | chr8:104312212-104924482 | Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
3 | nsv539704 | chr8:104312212-104924482 | Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
4 | nsv1023048 | chr8:104355188-104872701 | Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
5 | nsv539705 | chr8:104355188-104872701 | ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
6 | nsv1021345 | chr8:104361854-104879684 | Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
7 | nsv1032085 | chr8:104362187-104878345 | Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
8 | nsv1034183 | chr8:104369940-104814008 | Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
9 | nsv539707 | chr8:104369940-104814008 | Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
10 | esv2753239 | chr8:104404824-104545824 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:104492200-104510600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr8:104497800-104498200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr8:104497800-104502800 | Strong transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |