Variant report
Variant | rs7968356 |
---|---|
Chromosome Location | chr12:66472661-66472662 |
allele | A/G |
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 | chr12:66470991..66472905-chr12:66474513..66476422,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10431571 | 0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10506478 | 0.86[CEU][hapmap] |
rs10735933 | 0.83[CHB][hapmap];0.91[JPT][hapmap] |
rs10878375 | 0.86[EUR][1000 genomes] |
rs10878376 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs10878381 | 0.95[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap] |
rs10878382 | 0.95[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap] |
rs10878383 | 0.90[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap] |
rs10878389 | 0.86[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap] |
rs11176035 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs11176043 | 0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap] |
rs11176056 | 0.95[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap] |
rs11176081 | 0.87[JPT][hapmap];0.84[YRI][hapmap] |
rs11176082 | 0.81[JPT][hapmap] |
rs11832742 | 0.81[AFR][1000 genomes] |
rs12832926 | 0.95[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap] |
rs17767200 | 0.95[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap] |
rs1898304 | 0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap] |
rs2178486 | 0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap] |
rs2870781 | 0.96[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap] |
rs7295147 | 0.96[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap] |
rs7966561 | 0.90[CHB][hapmap];0.86[JPT][hapmap] |
rs7979029 | 0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1052503 | chr12:66293898-67269495 | Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 51 gene(s) | inside rSNPs | diseases |
2 | nsv541515 | chr12:66293898-67269495 | Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 51 gene(s) | inside rSNPs | diseases |
3 | nsv899213 | chr12:66389968-66500036 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 5 gene(s) | inside rSNPs | diseases |
4 | nsv832446 | chr12:66393863-66501484 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 5 gene(s) | inside rSNPs | diseases |
5 | nsv1049537 | chr12:66403269-66606174 | Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
SNP | Gene | Cis/trans | Tissue | Source |
---|---|---|---|---|
rs7968356 | RP11-745O10.2 | cis | Whole Blood | GTEx |
rs7968356 | TMBIM4 | cis | uninvolved skin | skin_eQTL |
rs7968356 | RP11-745O10.2 | cis | Skin Sun Exposed Lower leg | GTEx |
rs7968356 | TMBIM4 | cis | lesional skin | skin_eQTL |
rs7968356 | TMBIM4 | Cis_1M | lymphoblastoid | RTeQTL |
rs7968356 | RP11-745O10.2 | cis | Artery Tibial | GTEx |
rs7968356 | RP11-745O10.2 | cis | lung | GTEx |
rs7968356 | TMBIM4 | cis | normal skin | skin_eQTL |
rs7968356 | RP11-745O10.2 | cis | Thyroid | GTEx |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:66468800-66486000 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |