Variant report
Variant | rs11172998 |
---|---|
Chromosome Location | chr12:40043005-40043006 |
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 | chr12:40041383..40044331-chr12:40082931..40085850,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10047563 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs10747825 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs10783993 | 0.91[EUR][1000 genomes] |
rs10783998 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs10784001 | 0.92[EUR][1000 genomes] |
rs10784016 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs10877335 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs10877337 | 0.91[EUR][1000 genomes] |
rs10877369 | 0.88[EUR][1000 genomes] |
rs10877410 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs11173257 | 0.87[EUR][1000 genomes] |
rs11173260 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs11173262 | 0.90[EUR][1000 genomes] |
rs11173376 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs11173394 | 0.86[EUR][1000 genomes] |
rs11173401 | 0.86[EUR][1000 genomes] |
rs11173423 | 0.86[EUR][1000 genomes] |
rs11173424 | 0.86[EUR][1000 genomes] |
rs11173428 | 0.86[EUR][1000 genomes] |
rs11173433 | 0.86[EUR][1000 genomes] |
rs11173434 | 0.86[EUR][1000 genomes] |
rs11173440 | 0.86[EUR][1000 genomes] |
rs11173446 | 0.86[EUR][1000 genomes] |
rs11173459 | 0.86[EUR][1000 genomes] |
rs11173494 | 0.86[EUR][1000 genomes] |
rs11173507 | 0.86[EUR][1000 genomes] |
rs11173541 | 0.83[EUR][1000 genomes] |
rs11173551 | 0.83[EUR][1000 genomes] |
rs11173553 | 0.82[EUR][1000 genomes] |
rs11532458 | 0.80[EUR][1000 genomes] |
rs12229203 | 0.85[EUR][1000 genomes] |
rs12229418 | 0.85[EUR][1000 genomes] |
rs12230687 | 0.86[EUR][1000 genomes] |
rs12825223 | 0.90[EUR][1000 genomes] |
rs4077987 | 0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4417382 | 0.92[EUR][1000 genomes] |
rs4594067 | 0.92[EUR][1000 genomes] |
rs4768168 | 0.86[EUR][1000 genomes] |
rs4768169 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs4768170 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs57244766 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs58418587 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs58755301 | 0.84[EUR][1000 genomes] |
rs61931185 | 0.86[EUR][1000 genomes] |
rs61931208 | 0.86[EUR][1000 genomes] |
rs61933102 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs61933154 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs61933157 | 0.86[EUR][1000 genomes] |
rs61933158 | 0.86[EUR][1000 genomes] |
rs6421195 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs6421196 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs6421197 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs6421198 | 0.92[EUR][1000 genomes] |
rs6581263 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs6581265 | 0.92[EUR][1000 genomes] |
rs6581266 | 0.92[EUR][1000 genomes] |
rs6581270 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs6581271 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs6581272 | 0.92[EUR][1000 genomes] |
rs6581294 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs7136929 | 0.81[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs7296585 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs7301886 | 0.86[EUR][1000 genomes] |
rs7485345 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs7486196 | 0.83[EUR][1000 genomes] |
rs7486621 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs7956577 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs7959905 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs7961070 | 0.92[EUR][1000 genomes] |
rs7961346 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs7973312 | 0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7980636 | 0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv531527 | chr12:39680812-40182822 | Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
2 | nsv1037457 | chr12:39898349-40245401 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
3 | nsv541480 | chr12:39898349-40245401 | Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
4 | nsv899014 | chr12:39946354-40068896 | Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
5 | nsv899015 | chr12:39946354-40118249 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
6 | nsv899017 | chr12:39949147-40081619 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
7 | nsv899018 | chr12:39949147-40111761 | Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
8 | nsv899021 | chr12:39989172-40053423 | Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
9 | nsv899022 | chr12:40014427-40111761 | Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:40039600-40044400 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |