Variant report
Variant | rs10192344 |
---|---|
Chromosome Location | chr2:186728951-186728952 |
allele | C/T |
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 | chr2:186720960..186722500-chr2:186726629..186729211,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10084180 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs10084213 | 0.92[EUR][1000 genomes] |
rs10084243 | 0.92[EUR][1000 genomes] |
rs10165771 | 0.92[EUR][1000 genomes] |
rs10166087 | 1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10166573 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10168492 | 1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10176556 | 0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10178908 | 0.95[ASN][1000 genomes] |
rs10179757 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10184593 | 0.92[EUR][1000 genomes] |
rs10190831 | 1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10192544 | 1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10193888 | 0.92[EUR][1000 genomes] |
rs10202092 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10202773 | 0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10206262 | 1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10208691 | 0.92[EUR][1000 genomes] |
rs10221663 | 0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10221794 | 0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10803989 | 0.88[AMR][1000 genomes];0.83[ASN][1000 genomes] |
rs10931195 | 0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs10931199 | 0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs1116602 | 0.83[ASN][1000 genomes] |
rs11887570 | 0.80[AMR][1000 genomes];0.83[ASN][1000 genomes] |
rs11903586 | 0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs12328530 | 0.92[EUR][1000 genomes] |
rs12468005 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs12620350 | 0.83[ASN][1000 genomes] |
rs12693412 | 0.83[ASN][1000 genomes] |
rs13002717 | 0.83[ASN][1000 genomes] |
rs13020956 | 0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs13386652 | 0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13391326 | 0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs13397408 | 0.92[EUR][1000 genomes] |
rs13398117 | 0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs13404019 | 1.00[EUR][1000 genomes] |
rs13407744 | 0.92[EUR][1000 genomes] |
rs13408036 | 0.92[EUR][1000 genomes] |
rs13409156 | 1.00[EUR][1000 genomes] |
rs13410615 | 1.00[EUR][1000 genomes] |
rs13411162 | 0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13415054 | 1.00[EUR][1000 genomes] |
rs13418659 | 0.92[EUR][1000 genomes] |
rs13422719 | 1.00[EUR][1000 genomes] |
rs13424121 | 1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13425377 | 0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13425817 | 1.00[EUR][1000 genomes] |
rs13428759 | 0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13428998 | 0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1601727 | 0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs16827364 | 0.92[EUR][1000 genomes] |
rs1872832 | 0.92[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs2193614 | 0.88[AMR][1000 genomes];0.83[ASN][1000 genomes] |
rs2193820 | 0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs2370469 | 0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs2370472 | 0.88[AMR][1000 genomes];0.83[ASN][1000 genomes] |
rs4627527 | 1.00[AFR][1000 genomes];1.00[EUR][1000 genomes] |
rs4667053 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs6434142 | 0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs6706525 | 0.80[AMR][1000 genomes];0.83[ASN][1000 genomes] |
rs6713566 | 0.80[AMR][1000 genomes];0.83[ASN][1000 genomes] |
rs6758484 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs6761586 | 0.83[ASN][1000 genomes] |
rs7566568 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs7576532 | 0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs7592234 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs7602278 | 0.83[ASN][1000 genomes] |
rs7606681 | 0.88[AMR][1000 genomes];0.83[ASN][1000 genomes] |
rs7607020 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs763329 | 0.80[AMR][1000 genomes];0.83[ASN][1000 genomes] |
rs9283493 | 0.92[EUR][1000 genomes] |
rs9288120 | 0.92[EUR][1000 genomes] |
rs991327 | 0.83[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1007052 | chr2:186441382-186864390 | Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
2 | nsv584019 | chr2:186445393-186866874 | ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
3 | nsv1009118 | chr2:186450293-186864390 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
4 | nsv1008230 | chr2:186474069-186818718 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
5 | nsv536076 | chr2:186474069-186818718 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
6 | nsv584021 | chr2:186475590-186866841 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
7 | nsv875545 | chr2:186566024-187280164 | Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
8 | esv1797599 | chr2:186618494-186882821 | Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
9 | nsv817325 | chr2:186625679-187200841 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
10 | nsv868949 | chr2:186657142-187327560 | Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
11 | nsv1002243 | chr2:186692815-187150225 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
12 | nsv536077 | chr2:186692815-187150225 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:186716800-186767200 | Weak transcription | Ovary | ovary |
2 | chr2:186727400-186729600 | Active TSS | HUES6 Cell Line | embryonic stem cell |
3 | chr2:186727600-186729600 | Active TSS | K562 | blood |
4 | chr2:186727800-186730200 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
5 | chr2:186728000-186729000 | Weak transcription | HepG2 | liver |
6 | chr2:186728200-186729000 | Weak transcription | H9 Cell Line | embryonic stem cell |
7 | chr2:186728200-186729400 | Active TSS | ES-WA7 Cell Line | embryonic stem cell |
8 | chr2:186728400-186729600 | Active TSS | iPS-15b Cell Line | embryonic stem cell |
9 | chr2:186728600-186729600 | Active TSS | HUES64 Cell Line | embryonic stem cell |
10 | chr2:186728800-186729600 | Active TSS | HUES48 Cell Line | embryonic stem cell |
11 | chr2:186728800-186729600 | Active TSS | Placenta | Placenta |