Variant report
Variant | rs11174238 |
---|---|
Chromosome Location | chr12:40303094-40303095 |
allele | G/T |
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 | chr12:40301225..40304048-chr12:40312812..40315442,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10747886 | 0.83[JPT][hapmap] |
rs10747943 | 0.87[ASN][1000 genomes] |
rs10784079 | 0.81[JPT][hapmap] |
rs10784261 | 0.94[CHB][hapmap];0.86[ASN][1000 genomes] |
rs10784274 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10877733 | 0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10877743 | 0.82[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs10877768 | 0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10877772 | 1.00[CHB][hapmap];0.89[ASN][1000 genomes] |
rs10877773 | 1.00[CHB][hapmap];0.89[ASN][1000 genomes] |
rs11174104 | 0.81[JPT][hapmap] |
rs11174153 | 0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs11174235 | 0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11174291 | 0.89[ASN][1000 genomes] |
rs11612814 | 1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes] |
rs11833368 | 1.00[CHB][hapmap];0.89[ASN][1000 genomes] |
rs1497050 | 1.00[CHB][hapmap];0.89[ASN][1000 genomes] |
rs1874560 | 1.00[CHB][hapmap];0.89[ASN][1000 genomes] |
rs2029972 | 0.81[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs2404349 | 0.94[CHB][hapmap];0.89[ASN][1000 genomes] |
rs4350423 | 0.81[JPT][hapmap] |
rs4473002 | 0.81[JPT][hapmap] |
rs4539398 | 0.81[JPT][hapmap] |
rs4598727 | 0.81[JPT][hapmap] |
rs4604958 | 0.82[JPT][hapmap] |
rs4768188 | 0.81[JPT][hapmap] |
rs57351062 | 0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs6581405 | 0.81[JPT][hapmap] |
rs7133553 | 1.00[CHB][hapmap];0.89[ASN][1000 genomes] |
rs7134965 | 0.89[ASN][1000 genomes] |
rs7135753 | 1.00[CHB][hapmap];0.89[ASN][1000 genomes] |
rs7298896 | 0.89[ASN][1000 genomes] |
rs7299886 | 0.84[ASN][1000 genomes] |
rs7308155 | 0.82[JPT][hapmap] |
rs7958983 | 0.81[JPT][hapmap] |
rs7962260 | 0.81[JPT][hapmap] |
rs7967956 | 0.83[JPT][hapmap] |
rs7968509 | 0.81[JPT][hapmap] |
rs7971924 | 1.00[CHB][hapmap] |
rs884866 | 0.84[CHB][hapmap];0.86[ASN][1000 genomes] |
rs9325174 | 1.00[CHB][hapmap];0.89[ASN][1000 genomes] |
rs956066 | 0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[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 | nsv899025 | chr12:40191778-40321846 | ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
2 | nsv1049214 | chr12:40197549-40326495 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
3 | nsv1046428 | chr12:40226283-40439843 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
4 | nsv541481 | chr12:40226283-40439843 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
5 | nsv558593 | chr12:40279428-40317017 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | 2 gene(s) | inside rSNPs | n/a |
6 | nsv558594 | chr12:40299849-40303631 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | n/a |
7 | esv2757500 | chr12:40299913-40331853 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
8 | esv2759895 | chr12:40299913-40331853 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
9 | nsv8966 | chr12:40301433-40316300 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
10 | esv3485964 | chr12:40301558-40315926 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
11 | nsv436152 | chr12:40301604-40316186 | Weak transcription Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
12 | esv3485941 | chr12:40301606-40315901 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
13 | esv2421863 | chr12:40301611-40314753 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
14 | esv3485975 | chr12:40301623-40315887 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
15 | esv3485953 | chr12:40301638-40315841 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
16 | esv3485986 | chr12:40301638-40315841 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
17 | esv19327 | chr12:40301693-40315894 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
18 | esv3693121 | chr12:40301720-40317017 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
19 | nsv558595 | chr12:40302581-40312496 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | n/a |
20 | nsv515811 | chr12:40302599-40312496 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | n/a |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:40298400-40314200 | Weak transcription | Fetal Kidney | kidney |
2 | chr12:40298800-40311200 | Weak transcription | Pancreas | Pancrea |
3 | chr12:40299200-40304400 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
4 | chr12:40299200-40305600 | Weak transcription | Esophagus | oesophagus |
5 | chr12:40299200-40306400 | Weak transcription | Left Ventricle | heart |
6 | chr12:40299600-40306200 | Weak transcription | Rectal Smooth Muscle | rectum |
7 | chr12:40299600-40309200 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
8 | chr12:40300000-40306200 | Weak transcription | Stomach Smooth Muscle | stomach |
9 | chr12:40300200-40309000 | Weak transcription | Pancreatic Islets | Pancreatic Islet |