Variant report
Variant | rs12306848 |
---|---|
Chromosome Location | chr12:105374406-105374407 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
No data |
(count:5 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:105371850..105375601-chr12:105378341..105381533,4 | K562 | blood: | |
2 | chr12:105368507..105370397-chr12:105372355..105374469,3 | MCF-7 | breast: | |
3 | chr12:105372994..105375958-chr12:105380772..105382455,2 | K562 | blood: | |
4 | chr12:105374222..105376739-chr12:105379905..105381631,3 | MCF-7 | breast: | |
5 | chr12:105373554..105375601-chr12:105378341..105380639,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
KRT18P20 | TF binding region |
ENSG00000151131 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10160991 | 0.84[ASN][1000 genomes] |
rs10161522 | 0.80[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10507186 | 1.00[CEU][hapmap] |
rs10507187 | 1.00[CEU][hapmap] |
rs10507188 | 1.00[CEU][hapmap] |
rs11112218 | 1.00[CEU][hapmap] |
rs11112276 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11112277 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11112279 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11112283 | 0.96[ASN][1000 genomes] |
rs11112307 | 0.96[ASN][1000 genomes] |
rs11112346 | 1.00[CHB][hapmap];0.86[JPT][hapmap] |
rs11503466 | 0.96[ASN][1000 genomes] |
rs12299385 | 0.94[ASN][1000 genomes] |
rs12299936 | 0.80[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12300005 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes] |
rs12300010 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12301432 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes] |
rs12301850 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12306191 | 0.80[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12306443 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12308952 | 0.80[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12310790 | 0.96[ASN][1000 genomes] |
rs12313077 | 0.80[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12314995 | 0.80[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12315975 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12315983 | 1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12316001 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes] |
rs12319632 | 0.80[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs12320024 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12320195 | 0.80[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12320880 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12321224 | 0.80[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12321226 | 0.80[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12321381 | 1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs17036439 | 1.00[CEU][hapmap] |
rs17036463 | 1.00[CEU][hapmap] |
rs17036494 | 1.00[CEU][hapmap] |
rs17036505 | 1.00[CEU][hapmap] |
rs17036509 | 1.00[CEU][hapmap] |
rs17036534 | 1.00[CEU][hapmap] |
rs17036542 | 1.00[CEU][hapmap] |
rs17036549 | 1.00[CEU][hapmap] |
rs17041531 | 1.00[CEU][hapmap] |
rs35879768 | 0.80[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs3812795 | 1.00[CEU][hapmap] |
rs4077312 | 1.00[CEU][hapmap] |
rs4267155 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4268581 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4375513 | 1.00[CEU][hapmap] |
rs4393405 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4451800 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4553438 | 1.00[CEU][hapmap] |
rs7131977 | 1.00[CEU][hapmap] |
rs7299019 | 1.00[CEU][hapmap] |
rs7964906 | 0.99[ASN][1000 genomes] |
rs7970504 | 1.00[CEU][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv899495 | chr12:104990469-105527011 | Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
2 | nsv899498 | chr12:105173598-105461620 | Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 22 gene(s) | inside rSNPs | diseases |
3 | nsv832505 | chr12:105315352-105497765 | Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
4 | nsv869 | chr12:105363425-105394904 | Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 12 gene(s) | inside rSNPs | diseases |
5 | nsv983361 | chr12:105367672-105376203 | Enhancers Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
6 | nsv512291 | chr12:105368996-105375344 | Enhancers Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
7 | esv3500896 | chr12:105370222-105374820 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
8 | esv3500907 | chr12:105370222-105374820 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
No data |