Variant report
| Variant | rs11971943 |
|---|---|
| Chromosome Location | chr7:146080018-146080019 |
| 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 | chr7:146077123..146080368-chr7:146083154..146084711,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:44)
| rs_ID | r2[population] |
|---|---|
| rs10224007 | 0.88[CEU][hapmap];1.00[GIH][hapmap] |
| rs10227977 | 1.00[ASN][1000 genomes] |
| rs10231549 | 1.00[ASN][1000 genomes] |
| rs10231672 | 1.00[ASN][1000 genomes] |
| rs10235457 | 0.88[CEU][hapmap] |
| rs10237250 | 1.00[GIH][hapmap] |
| rs10246857 | 1.00[GIH][hapmap] |
| rs10256837 | 1.00[ASN][1000 genomes] |
| rs10258224 | 0.84[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10273261 | 1.00[ASN][1000 genomes] |
| rs10275558 | 1.00[ASN][1000 genomes] |
| rs10280011 | 1.00[ASN][1000 genomes] |
| rs10487935 | 1.00[ASN][1000 genomes] |
| rs1358079 | 1.00[ASN][1000 genomes] |
| rs1358082 | 1.00[ASN][1000 genomes] |
| rs1358083 | 1.00[GIH][hapmap];1.00[ASN][1000 genomes] |
| rs1403008 | 1.00[ASN][1000 genomes] |
| rs1403009 | 1.00[ASN][1000 genomes] |
| rs1403010 | 1.00[ASN][1000 genomes] |
| rs1526162 | 1.00[ASN][1000 genomes] |
| rs1639478 | 0.82[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1639479 | 0.82[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1639485 | 1.00[ASN][1000 genomes] |
| rs1639487 | 1.00[ASN][1000 genomes] |
| rs1639489 | 1.00[ASN][1000 genomes] |
| rs1718073 | 1.00[ASN][1000 genomes] |
| rs1718074 | 1.00[ASN][1000 genomes] |
| rs1718075 | 1.00[GIH][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1718077 | 0.95[GIH][hapmap];1.00[ASN][1000 genomes] |
| rs1718078 | 1.00[ASN][1000 genomes] |
| rs1718080 | 1.00[ASN][1000 genomes] |
| rs1718082 | 1.00[ASN][1000 genomes] |
| rs1724526 | 1.00[ASN][1000 genomes] |
| rs1724527 | 1.00[ASN][1000 genomes] |
| rs1724529 | 1.00[ASN][1000 genomes] |
| rs1724531 | 1.00[ASN][1000 genomes] |
| rs1724535 | 1.00[ASN][1000 genomes] |
| rs1724536 | 0.84[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2535752 | 1.00[ASN][1000 genomes] |
| rs28687551 | 1.00[ASN][1000 genomes] |
| rs60409856 | 1.00[ASN][1000 genomes] |
| rs73738703 | 1.00[ASN][1000 genomes] |
| rs73738715 | 1.00[ASN][1000 genomes] |
| rs73738756 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv889384 | chr7:145541783-146239545 | Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv1020950 | chr7:145683419-146264304 | Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv889387 | chr7:145903862-146239545 | Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv533345 | chr7:145934546-146134958 | Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 5 | nsv889388 | chr7:145998111-146082957 | Enhancers Weak transcription Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 6 | nsv524528 | chr7:145998111-146086322 | Enhancers Weak transcription Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 7 | nsv889389 | chr7:145998111-146121539 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 8 | nsv608929 | chr7:146020936-146082957 | Enhancers Active TSS Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 9 | nsv608930 | chr7:146025509-146081452 | Enhancers Active TSS Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 10 | nsv917027 | chr7:146069317-146194011 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11971943 | CNTNAP2 | cis | cerebellum | SCAN |
| rs11971943 | TPK1 | cis | cerebellum | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
