Variant report
Variant | rs13249534 |
---|---|
Chromosome Location | chr8:8563210-8563211 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:4 , 50 per page) page:
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Variant related genes | Relation type |
---|---|
ENSG00000253958 | Chromatin interaction |
ENSG00000176305 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10095733 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs10103769 | 0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10108819 | 0.83[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs10113115 | 0.82[ASN][1000 genomes] |
rs10503394 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs1060106 | 0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs1060107 | 0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs1109619 | 0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs11249879 | 0.82[ASN][1000 genomes] |
rs11249880 | 0.82[ASN][1000 genomes] |
rs11249881 | 0.82[ASN][1000 genomes] |
rs11249883 | 0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs11249884 | 0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs11249885 | 0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs11249886 | 0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs11249887 | 0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs11249888 | 0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs11249889 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs11249890 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs11776987 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs11781257 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs11783670 | 0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs11783735 | 0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs11786125 | 0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs11995449 | 0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12153 | 0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs12541477 | 0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12541520 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12543768 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12545771 | 0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12546784 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12547721 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs12548792 | 0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12550057 | 0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12550458 | 0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12679360 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12679831 | 0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs12680019 | 0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12680167 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12681298 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12681326 | 0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12681327 | 0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs12681925 | 0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs13248447 | 0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs13249700 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13249817 | 0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13251887 | 0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs13254997 | 0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13255061 | 0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13255789 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13256404 | 0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13256611 | 0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13257302 | 0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13258283 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13259955 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs13262980 | 0.82[ASN][1000 genomes] |
rs13266562 | 0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13266699 | 0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs13267036 | 0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs13267365 | 0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs13267501 | 0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs13268249 | 0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs13270006 | 0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs13270852 | 0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs13271698 | 0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs13277708 | 0.84[ASN][1000 genomes] |
rs13280101 | 0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs13280759 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13281933 | 0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13282500 | 0.86[ASN][1000 genomes] |
rs13282580 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13282915 | 0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs1403373 | 0.85[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs2001354 | 0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2280560 | 0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs34194904 | 0.82[ASN][1000 genomes] |
rs34491508 | 0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs34762800 | 0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs35382339 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs4840350 | 0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs4840351 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs4840352 | 0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs4841014 | 0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4841015 | 0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs4841016 | 0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs57506062 | 0.82[ASN][1000 genomes] |
rs58023060 | 0.93[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs59003218 | 0.82[ASN][1000 genomes] |
rs7004438 | 0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs873063 | 0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs873064 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs883648 | 0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs885000 | 0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs9644772 | 0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs9644773 | 0.86[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv890331 | chr8:8093240-8971100 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 43 gene(s) | inside rSNPs | diseases |
2 | nsv1025994 | chr8:8108863-8580201 | Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
3 | nsv1030433 | chr8:8130629-8653691 | Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
4 | nsv539447 | chr8:8130629-8653691 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
5 | nsv1033463 | chr8:8221922-8674333 | Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
6 | nsv539451 | chr8:8221922-8674333 | Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
7 | nsv1019613 | chr8:8239352-8636357 | Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
8 | nsv539452 | chr8:8239352-8636357 | Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
9 | nsv1019606 | chr8:8353661-8736992 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
10 | nsv539456 | chr8:8353661-8736992 | Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
11 | nsv995047 | chr8:8353662-8857913 | Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
12 | nsv1016933 | chr8:8432279-8624770 | Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
13 | nsv1022511 | chr8:8493992-8737132 | Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
14 | nsv539457 | chr8:8493992-8737132 | Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
15 | nsv1033340 | chr8:8522963-8565946 | Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
16 | nsv539458 | chr8:8522963-8565946 | Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
17 | nsv1028237 | chr8:8532992-8588470 | Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
18 | nsv1022670 | chr8:8561196-8613387 | Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats | Chromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:8560000-8563600 | Enhancers | GM12878-XiMat | blood |
2 | chr8:8560000-8563600 | Weak transcription | Hela-S3 | cervix |
3 | chr8:8560400-8564400 | Weak transcription | Placenta Amnion | Placenta Amnion |
4 | chr8:8560800-8563600 | Weak transcription | Esophagus | oesophagus |
5 | chr8:8561000-8563400 | Weak transcription | Placenta | Placenta |
6 | chr8:8561000-8563800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
7 | chr8:8562200-8563400 | Weak transcription | Liver | Liver |
8 | chr8:8562200-8563400 | Weak transcription | Duodenum Mucosa | Duodenum |
9 | chr8:8562400-8563400 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
10 | chr8:8562400-8563600 | Weak transcription | Gastric | stomach |
11 | chr8:8562600-8563400 | Weak transcription | Stomach Mucosa | stomach |
12 | chr8:8562600-8563800 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
13 | chr8:8562600-8564400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
14 | chr8:8562600-8564800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
15 | chr8:8562800-8563600 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
16 | chr8:8562800-8565800 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
17 | chr8:8562800-8565800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
18 | chr8:8563000-8563400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
19 | chr8:8563000-8563800 | Weak transcription | Fetal Intestine Small | intestine |