Variant report
Variant | rs1446839 |
---|---|
Chromosome Location | chr2:178475205-178475206 |
allele | C/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
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(count:3 , 50 per page) page:
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Variant related genes | Relation type |
---|---|
ENSG00000197557 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10181259 | 0.84[CEU][hapmap] |
rs10201367 | 0.83[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs10201883 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs10497497 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs10497499 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10497504 | 0.84[CEU][hapmap] |
rs10803912 | 0.84[CEU][hapmap] |
rs10930802 | 0.83[ASN][1000 genomes] |
rs11679519 | 0.83[CEU][hapmap] |
rs11679730 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs11680632 | 1.00[CHB][hapmap] |
rs11694013 | 0.90[EUR][1000 genomes] |
rs11694988 | 0.91[CEU][hapmap] |
rs11889272 | 0.84[CEU][hapmap] |
rs12468046 | 1.00[CHD][hapmap] |
rs12618150 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs12620285 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs12621156 | 1.00[CHD][hapmap] |
rs12988366 | 0.91[CEU][hapmap];0.86[MEX][hapmap] |
rs13014417 | 0.84[CEU][hapmap] |
rs13017234 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs13017429 | 1.00[CHB][hapmap] |
rs13025391 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes] |
rs13025904 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes] |
rs13026012 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs13028757 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes] |
rs1317945 | 0.80[EUR][1000 genomes] |
rs13431091 | 0.84[CEU][hapmap] |
rs13431105 | 0.91[CEU][hapmap];1.00[CHB][hapmap] |
rs1345138 | 0.84[CEU][hapmap] |
rs1348851 | 0.84[CEU][hapmap];0.85[MEX][hapmap] |
rs1358326 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes] |
rs1358327 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs1374438 | 0.84[CEU][hapmap] |
rs1527403 | 0.87[EUR][1000 genomes] |
rs1534305 | 0.98[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs1544001 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs17326999 | 1.00[CHD][hapmap] |
rs1852530 | 0.91[CEU][hapmap] |
rs1867905 | 0.84[CEU][hapmap] |
rs1918345 | 0.88[EUR][1000 genomes] |
rs1918346 | 0.81[EUR][1000 genomes] |
rs1997206 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs1997207 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes] |
rs2091442 | 0.87[EUR][1000 genomes] |
rs2178017 | 0.84[CEU][hapmap];1.00[CHD][hapmap] |
rs2218575 | 0.84[CEU][hapmap] |
rs2222712 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes] |
rs2293475 | 0.84[CEU][hapmap] |
rs2365620 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs2365621 | 0.80[EUR][1000 genomes] |
rs2695315 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap] |
rs4110134 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs4144278 | 0.84[CEU][hapmap] |
rs4243389 | 0.84[CEU][hapmap] |
rs4341975 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs4893827 | 1.00[CHD][hapmap] |
rs4893829 | 0.84[CEU][hapmap] |
rs4893956 | 0.84[CEU][hapmap] |
rs4893967 | 0.83[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs4893970 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs4893973 | 0.98[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs4893978 | 0.80[EUR][1000 genomes] |
rs5025340 | 1.00[CHB][hapmap];0.87[EUR][1000 genomes] |
rs57986285 | 0.84[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs58160847 | 0.85[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs6433672 | 0.84[CEU][hapmap];1.00[CHD][hapmap] |
rs6433685 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs6433687 | 0.80[EUR][1000 genomes] |
rs6433688 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes] |
rs6710109 | 0.84[CEU][hapmap] |
rs6720483 | 1.00[CHD][hapmap] |
rs6721360 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs6723014 | 0.84[CEU][hapmap] |
rs6723031 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs6723063 | 0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs6746233 | 0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6756918 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs7560080 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs7560514 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs7560737 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes] |
rs7573345 | 1.00[CHB][hapmap];0.88[EUR][1000 genomes] |
rs7577552 | 0.80[EUR][1000 genomes] |
rs7578901 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs7582179 | 0.91[CEU][hapmap] |
rs7586934 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes] |
rs7588049 | 0.84[CEU][hapmap] |
rs7593744 | 1.00[CHB][hapmap] |
rs7593753 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs7597640 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |
rs9288001 | 1.00[CHD][hapmap] |
rs935426 | 0.84[CEU][hapmap] |
rs941271 | 1.00[CHB][hapmap];0.80[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv999086 | chr2:178262348-178773585 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
2 | nsv536055 | chr2:178262348-178773585 | Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
3 | esv2762964 | chr2:178416394-178481818 | Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
4 | esv3506731 | chr2:178416851-178482200 | Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
5 | esv3506732 | chr2:178416851-178482200 | Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
6 | esv3520312 | chr2:178417102-178482200 | Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
7 | esv3520313 | chr2:178417102-178482200 | Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
8 | nsv583688 | chr2:178427640-178540293 | Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
9 | nsv583689 | chr2:178468008-178509820 | Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:178462800-178475600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
2 | chr2:178462800-178482800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr2:178463800-178475400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
4 | chr2:178464200-178482600 | Weak transcription | Psoas Muscle | Psoas |
5 | chr2:178464200-178482600 | Weak transcription | Stomach Smooth Muscle | stomach |
6 | chr2:178464600-178482400 | Weak transcription | Colon Smooth Muscle | Colon |
7 | chr2:178468400-178482800 | Weak transcription | Fetal Brain Male | brain |
8 | chr2:178471800-178475600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
9 | chr2:178471800-178477400 | Weak transcription | Fetal Stomach | stomach |
10 | chr2:178471800-178482600 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
11 | chr2:178472600-178481000 | Weak transcription | Fetal Kidney | kidney |
12 | chr2:178474800-178477800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
13 | chr2:178475000-178476400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
14 | chr2:178475200-178475600 | Weak transcription | HepG2 | liver |
15 | chr2:178475200-178477800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |