Variant report
Variant | rs7247572 |
---|---|
Chromosome Location | chr19:20154364-20154365 |
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 | chr19:20153292..20157209-chr19:20159968..20162896,6 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10404484 | 0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10407270 | 0.91[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs10408129 | 0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10409512 | 0.81[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs10409614 | 0.89[ASN][1000 genomes] |
rs10409629 | 0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10410313 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10416812 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs10418140 | 0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10419467 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10420011 | 0.93[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10420124 | 0.93[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10420900 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10423526 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10423976 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11085293 | 0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs11085294 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11085295 | 0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1121387 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1121388 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11668688 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs11671950 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12463237 | 0.81[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12975130 | 0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12976158 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12977326 | 0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12983056 | 0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12983683 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1319479 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs17767339 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1860939 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1860940 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1974649 | 0.85[ASN][1000 genomes] |
rs1974650 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1974651 | 0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1987408 | 0.83[ASN][1000 genomes] |
rs2017721 | 0.91[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs2041606 | 0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2110124 | 0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2110125 | 0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2159921 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2215721 | 0.85[ASN][1000 genomes] |
rs2286920 | 0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2286921 | 0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2286922 | 0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2286923 | 0.93[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2335888 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2335889 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2335890 | 0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs2335892 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2335896 | 0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2335897 | 0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs258575 | 0.81[CEU][hapmap];0.91[CHB][hapmap] |
rs258579 | 0.81[CEU][hapmap] |
rs2878552 | 0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs4563152 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs4809023 | 0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs5013556 | 0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6511066 | 0.93[CEU][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs6511067 | 0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs6511069 | 0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6511070 | 0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6511071 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.81[MEX][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs6511072 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6511073 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs6511074 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs6511075 | 0.83[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs6511076 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes] |
rs71944124 | 0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7246955 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7247476 | 0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7247483 | 0.83[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7247818 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7247843 | 0.81[ASN][1000 genomes] |
rs7248117 | 0.89[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7248186 | 0.89[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7250923 | 0.93[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs7251276 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7256046 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs8101213 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs8101367 | 0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs8103577 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs8103855 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs8104703 | 0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs8104933 | 0.89[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs8106847 | 0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs8107041 | 0.93[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs8109906 | 0.82[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs8112738 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs8182568 | 0.85[ASN][1000 genomes] |
rs9304964 | 0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs9304965 | 0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs963380 | 0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs993044 | 0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv519535 | chr19:19871250-20595412 | Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 56 gene(s) | inside rSNPs | diseases |
2 | esv3319016 | chr19:19917475-20819154 | Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 56 gene(s) | inside rSNPs | diseases |
3 | esv3319017 | chr19:19917475-20819154 | ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 56 gene(s) | inside rSNPs | diseases |
4 | nsv1061846 | chr19:19946927-20595412 | Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 47 gene(s) | inside rSNPs | diseases |
5 | esv3390957 | chr19:19965887-20819154 | Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 53 gene(s) | inside rSNPs | diseases |
6 | nsv869122 | chr19:19969851-20595412 | ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 47 gene(s) | inside rSNPs | diseases |
7 | nsv1057569 | chr19:19973268-20193556 | Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
8 | nsv1059158 | chr19:19973489-20576161 | Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 43 gene(s) | inside rSNPs | diseases |
9 | nsv911319 | chr19:20025940-20170214 | ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
10 | nsv870354 | chr19:20043821-20576175 | ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 34 gene(s) | inside rSNPs | diseases |
11 | nsv1062018 | chr19:20053658-20193556 | Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
12 | nsv1066004 | chr19:20053658-20592867 | ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 35 gene(s) | inside rSNPs | diseases |
13 | nsv543932 | chr19:20053658-20592867 | Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 35 gene(s) | inside rSNPs | diseases |
14 | nsv1066564 | chr19:20056348-20595412 | Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 36 gene(s) | inside rSNPs | diseases |
15 | nsv1066375 | chr19:20061084-20574512 | Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 31 gene(s) | inside rSNPs | diseases |
16 | nsv543934 | chr19:20061084-20574512 | Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 31 gene(s) | inside rSNPs | diseases |
17 | esv3501977 | chr19:20072180-20193556 | ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
18 | esv3501978 | chr19:20072180-20193556 | Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
19 | nsv1057309 | chr19:20072886-20595412 | Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 34 gene(s) | inside rSNPs | diseases |
20 | nsv578801 | chr19:20084681-20595412 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 33 gene(s) | inside rSNPs | diseases |
21 | nsv1055694 | chr19:20088866-20595412 | Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 33 gene(s) | inside rSNPs | diseases |
22 | nsv578802 | chr19:20091702-20595412 | ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 33 gene(s) | inside rSNPs | diseases |
23 | nsv1066970 | chr19:20093894-20164335 | Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
24 | nsv1062725 | chr19:20097317-20157102 | Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
25 | nsv1064400 | chr19:20101052-20595412 | Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 33 gene(s) | inside rSNPs | diseases |
26 | nsv911322 | chr19:20111134-20193556 | Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
27 | nsv578803 | chr19:20116963-20160115 | Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
28 | nsv1066045 | chr19:20142912-20179084 | Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
29 | nsv512567 | chr19:20150695-20154387 | Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
30 | nsv911325 | chr19:20151257-21071548 | ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 49 gene(s) | inside rSNPs | diseases |
SNP | Gene | Cis/trans | Tissue | Source |
---|---|---|---|---|
rs7247572 | SAGE1 | trans | parietal | SCAN |
rs7247572 | ZNF682 | cis | Lymphoblastoid | GTEx |
rs7247572 | ZNF253 | cis | parietal | SCAN |
rs7247572 | ZNF682 | cis | parietal | SCAN |
rs7247572 | ZNF682 | cis | lymphoblastoid | seeQTL |
rs7247572 | ZNF253 | cis | Nerve Tibial | GTEx |
rs7247572 | ZNF506 | Cis_1M | lymphoblastoid | RTeQTL |
rs7247572 | ZNF682 | cis | cerebellum | SCAN |
rs7247572 | ATP13A1 | cis | parietal | SCAN |
rs7247572 | ZNF100 | cis | cerebellum | SCAN |
rs7247572 | ZNF682 | cis | Muscle Skeletal | GTEx |
rs7247572 | SLC5A5 | cis | parietal | SCAN |
rs7247572 | ZNF93 | cis | cerebellum | SCAN |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:20150200-20154800 | Weak transcription | Fetal Heart | heart |
2 | chr19:20150400-20162600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr19:20150600-20155400 | Weak transcription | Right Atrium | heart |
4 | chr19:20150800-20155200 | Weak transcription | Fetal Lung | lung |
5 | chr19:20150800-20156000 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
6 | chr19:20150800-20156000 | Weak transcription | NHEK | skin |
7 | chr19:20151000-20155400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
8 | chr19:20151000-20156200 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
9 | chr19:20151000-20162400 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
10 | chr19:20152400-20155000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
11 | chr19:20154000-20155000 | Weak transcription | Left Ventricle | heart |