Variant report
Variant | rs7185407 |
---|---|
Chromosome Location | chr16:72034957-72034958 |
allele | A/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
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Variant related genes | Relation type |
---|---|
ENSG00000263311 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10048111 | 0.83[ASN][1000 genomes] |
rs1035559 | 0.93[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1035560 | 0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10492813 | 0.86[GIH][hapmap] |
rs10492814 | 0.86[GIH][hapmap] |
rs1050362 | 0.84[CEU][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap] |
rs11642993 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11648003 | 0.97[ASN][1000 genomes] |
rs11864453 | 1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12325142 | 0.84[CEU][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap] |
rs12708928 | 0.80[CEU][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap] |
rs2012817 | 0.81[ASN][1000 genomes] |
rs2072142 | 0.84[CEU][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap] |
rs2074626 | 0.84[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap] |
rs2074627 | 0.84[CEU][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap] |
rs2240243 | 0.80[CEU][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap] |
rs2241412 | 0.89[GIH][hapmap];0.81[MEX][hapmap] |
rs2278027 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2303285 | 0.86[GIH][hapmap] |
rs2550035 | 0.86[GIH][hapmap] |
rs2854956 | 0.84[CEU][hapmap] |
rs3213420 | 0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs3213422 | 0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.89[ASN][1000 genomes] |
rs3764312 | 0.91[GIH][hapmap];0.81[MEX][hapmap] |
rs3764314 | 0.86[GIH][hapmap] |
rs4788454 | 0.88[CHD][hapmap];0.86[YRI][hapmap] |
rs4788597 | 0.91[CHD][hapmap];0.81[ASN][1000 genomes] |
rs4788598 | 0.81[ASN][1000 genomes] |
rs4788600 | 0.88[CHD][hapmap];0.84[ASN][1000 genomes] |
rs6680 | 0.89[GIH][hapmap] |
rs7185215 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7186207 | 0.88[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes] |
rs7195958 | 0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes] |
rs7201491 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs752434 | 0.82[ASN][1000 genomes] |
rs8051239 | 0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes] |
rs8051882 | 0.81[CHD][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap] |
rs8062041 | 0.82[CEU][hapmap] |
rs929866 | 0.84[CHB][hapmap];0.91[CHD][hapmap];0.81[ASN][1000 genomes] |
rs9922385 | 0.93[YRI][hapmap] |
rs9926927 | 0.86[GIH][hapmap] |
rs9941087 | 0.80[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv948468 | chr16:71727571-72651914 | Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 89 gene(s) | inside rSNPs | diseases |
2 | nsv1056439 | chr16:71916498-72051144 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
3 | nsv1055854 | chr16:71922144-72082886 | Strong transcription Weak transcription Enhancers Active TSS Flanking 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 regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
4 | nsv833273 | chr16:71971805-72152854 | Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | diseases |
5 | esv2758430 | chr16:71976344-72274347 | Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 34 gene(s) | inside rSNPs | diseases |
6 | esv2758654 | chr16:71976344-72274347 | Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 34 gene(s) | inside rSNPs | diseases |
7 | nsv428329 | chr16:71976344-72274347 | Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 34 gene(s) | inside rSNPs | diseases |
8 | nsv906894 | chr16:72013539-72046211 | Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 12 gene(s) | inside rSNPs | n/a |
SNP | Gene | Cis/trans | Tissue | Source |
---|---|---|---|---|
rs7185407 | DHODH | cis | parietal | SCAN |
rs7185407 | DHODH | cis | Esophagus Muscularis | GTEx |
rs7185407 | HP | cis | multi-tissue | Pritchard |
rs7185407 | HPR | cis | cerebellum | SCAN |
rs7185407 | HP | cis | cerebellum | SCAN |
rs7185407 | HP | cis | parietal | SCAN |
rs7185407 | DHODH | cis | Nerve Tibial | GTEx |
rs7185407 | HPR | cis | parietal | SCAN |
rs7185407 | DHX38 | cis | lymphoblastoid | seeQTL |
rs7185407 | PHLPP2 | cis | parietal | SCAN |
rs7185407 | NRN1L | cis | parietal | SCAN |
rs7185407 | DHODH | cis | Artery Tibial | GTEx |
rs7185407 | DHODH | cis | cerebellum | SCAN |
rs7185407 | DHX38 | cis | multi-tissue | Pritchard |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr16:72033400-72035400 | Enhancers | HepG2 | liver |
2 | chr16:72033800-72035000 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
3 | chr16:72034000-72035200 | Weak transcription | Stomach Mucosa | stomach |
4 | chr16:72034000-72035800 | Weak transcription | Primary monocytes fromperipheralblood | blood |
5 | chr16:72034400-72035000 | Weak transcription | Fetal Muscle Leg | muscle |
6 | chr16:72034800-72035600 | Enhancers | Rectal Mucosa Donor 29 | rectum |