Variant report
Variant | rs6581357 |
---|---|
Chromosome Location | chr12:40205999-40206000 |
allele | A/C |
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 | chr12:40205089..40207164-chr12:40209269..40211220,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10219652 | 0.82[CEU][hapmap] |
rs10444570 | 0.81[MEX][hapmap];0.83[TSI][hapmap] |
rs10735885 | 0.83[CEU][hapmap] |
rs10747878 | 0.81[CEU][hapmap] |
rs10783959 | 0.83[CEU][hapmap] |
rs10784001 | 0.81[MEX][hapmap] |
rs10784051 | 0.83[CEU][hapmap] |
rs10784059 | 0.83[CEU][hapmap] |
rs10784065 | 0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10877383 | 0.83[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap] |
rs10877474 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs11173459 | 0.81[MEX][hapmap] |
rs11173494 | 0.90[MEX][hapmap] |
rs11173550 | 0.83[CEU][hapmap] |
rs12229203 | 0.81[MEX][hapmap] |
rs12823801 | 0.83[CEU][hapmap] |
rs4129365 | 0.81[MEX][hapmap] |
rs4238073 | 0.81[MEX][hapmap];0.83[TSI][hapmap] |
rs4254134 | 0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4357762 | 0.81[MEX][hapmap] |
rs4372520 | 1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4393383 | 0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs4411336 | 0.83[CEU][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap] |
rs4491316 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.80[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs4495951 | 0.81[MEX][hapmap] |
rs4545632 | 0.91[ASN][1000 genomes] |
rs4594067 | 0.81[MEX][hapmap] |
rs4767949 | 0.82[MEX][hapmap];0.82[TSI][hapmap] |
rs4768168 | 0.81[MEX][hapmap] |
rs6421196 | 0.81[MEX][hapmap] |
rs6581250 | 0.83[CEU][hapmap] |
rs6581271 | 0.81[MEX][hapmap] |
rs6581351 | 0.88[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes] |
rs7135877 | 0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7136860 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs73092111 | 0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs73092113 | 0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs73092119 | 0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7487812 | 0.87[CEU][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | 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 |
2 | 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 |
3 | nsv1052012 | chr12:40180398-40237782 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
4 | nsv1040628 | chr12:40180398-40244001 | Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
5 | 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 |
6 | 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 |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:40193800-40255800 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
2 | chr12:40194600-40232600 | Weak transcription | Right Ventricle | heart |
3 | chr12:40199200-40265400 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
4 | chr12:40205800-40206200 | ZNF genes & repeats | Cortex derived primary cultured neurospheres | brain |