Variant report
Variant | rs11116857 |
---|---|
Chromosome Location | chr12:85923100-85923101 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:85916869..85918658-chr12:85921402..85924342,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10083104 | 0.82[ASN][1000 genomes] |
rs10466964 | 0.81[ASN][1000 genomes] |
rs10779163 | 0.90[EUR][1000 genomes] |
rs10779165 | 0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10779166 | 0.84[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10779174 | 0.81[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs10779179 | 0.89[ASN][1000 genomes] |
rs10862989 | 1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs10862992 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10862994 | 0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10862995 | 0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10862997 | 0.80[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes] |
rs10862998 | 0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10863006 | 0.88[ASN][1000 genomes] |
rs10863019 | 0.81[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10863021 | 0.89[ASN][1000 genomes] |
rs10863022 | 0.86[ASN][1000 genomes] |
rs10863023 | 0.86[ASN][1000 genomes] |
rs10863031 | 0.82[ASN][1000 genomes] |
rs10863034 | 0.86[CHB][hapmap];0.94[JPT][hapmap] |
rs10863035 | 0.86[CHB][hapmap];0.94[JPT][hapmap] |
rs11116813 | 0.81[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs11116838 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs11116850 | 0.95[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs11116851 | 0.95[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs11116853 | 1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs11116913 | 0.90[ASN][1000 genomes] |
rs11116933 | 0.88[ASN][1000 genomes] |
rs12230791 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12303708 | 0.90[ASN][1000 genomes] |
rs12311475 | 0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12318024 | 0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1547544 | 0.81[EUR][1000 genomes] |
rs17013043 | 0.83[ASN][1000 genomes] |
rs1870936 | 0.81[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs2199510 | 0.83[ASN][1000 genomes] |
rs2199515 | 0.81[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs28637596 | 0.83[ASN][1000 genomes] |
rs2897092 | 0.81[ASN][1000 genomes] |
rs4143506 | 0.90[ASN][1000 genomes] |
rs4761064 | 0.90[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs4761080 | 0.81[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs6539898 | 0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs67352195 | 0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7308482 | 0.86[ASN][1000 genomes] |
rs7310496 | 0.83[ASN][1000 genomes] |
rs7397867 | 0.83[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7485843 | 0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7488757 | 0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs7488922 | 0.95[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs7975674 | 0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7976228 | 1.00[AMR][1000 genomes];0.99[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 | esv1792335 | chr12:85321249-86003609 | Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
2 | nsv817242 | chr12:85622245-86069213 | Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
3 | nsv1054573 | chr12:85658602-86235433 | Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
4 | nsv1035600 | chr12:85661373-86235433 | Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
5 | nsv1053044 | chr12:85843030-85942504 | Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
6 | nsv1036617 | chr12:85855093-86010549 | Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
7 | esv2751125 | chr12:85884858-86098240 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
8 | nsv1043253 | chr12:85888151-86125364 | Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
9 | nsv795 | chr12:85893392-85938122 | Enhancers Weak transcription Active TSS Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
10 | nsv1041556 | chr12:85897131-85934317 | Enhancers Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
11 | nsv1037938 | chr12:85902517-86045125 | Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
12 | esv2761758 | chr12:85906092-86045137 | Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
13 | nsv455679 | chr12:85908396-86024749 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
14 | nsv559664 | chr12:85908396-86024749 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
15 | nsv559665 | chr12:85908396-86070692 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
16 | esv2751126 | chr12:85912432-86061403 | Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
17 | nsv520857 | chr12:85919312-85927862 | Weak transcription Active TSS Enhancers Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:85921400-85924200 | Weak transcription | H1 Cell Line | embryonic stem cell |
2 | chr12:85921400-85925200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr12:85921600-85926200 | Enhancers | Fetal Intestine Small | intestine |
4 | chr12:85922400-85924000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
5 | chr12:85922400-85924200 | Weak transcription | Primary hematopoietic stem cells | blood |
6 | chr12:85922600-85924000 | Weak transcription | GM12878-XiMat | blood |