Variant report
Variant | rs10198939 |
---|---|
Chromosome Location | chr2:149120841-149120842 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10164630 | 0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10167314 | 0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10176383 | 0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10180661 | 0.85[EUR][1000 genomes] |
rs10181225 | 0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs10188234 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs10191789 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10192814 | 0.81[EUR][1000 genomes] |
rs10199369 | 0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10199719 | 0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10208839 | 0.90[ASN][1000 genomes] |
rs10928395 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11686180 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12463713 | 0.82[AFR][1000 genomes] |
rs12464334 | 0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12464361 | 0.89[ASN][1000 genomes] |
rs12465493 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12469720 | 0.91[ASN][1000 genomes] |
rs12478120 | 0.99[ASN][1000 genomes] |
rs12613727 | 0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs12615490 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12616001 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12618358 | 0.89[ASN][1000 genomes] |
rs12691792 | 0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs12992721 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13427268 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs1404185 | 0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs1404186 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1404187 | 0.91[ASN][1000 genomes] |
rs1453317 | 0.84[ASN][1000 genomes] |
rs1916960 | 0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2140606 | 0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2602352 | 0.86[ASN][1000 genomes] |
rs2656325 | 0.86[ASN][1000 genomes] |
rs2938705 | 0.86[ASN][1000 genomes] |
rs34280527 | 0.84[ASN][1000 genomes] |
rs35177340 | 0.86[ASN][1000 genomes] |
rs35630407 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35997635 | 0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4635473 | 0.85[EUR][1000 genomes] |
rs4972358 | 0.90[ASN][1000 genomes] |
rs62183965 | 0.86[ASN][1000 genomes] |
rs6706914 | 0.84[EUR][1000 genomes] |
rs6708633 | 0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6723914 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6731199 | 0.82[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs6734448 | 0.92[ASN][1000 genomes] |
rs6745934 | 0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6748825 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6749083 | 0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7355758 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7425880 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7567204 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs7592019 | 0.92[ASN][1000 genomes] |
rs7593033 | 0.83[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs7606618 | 0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs7607930 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs869595 | 0.89[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1009608 | chr2:148897348-149133718 | Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
2 | esv2753542 | chr2:149004714-149268503 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
3 | nsv1012275 | chr2:149031668-149316793 | Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
4 | nsv1012123 | chr2:149078500-149151358 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
5 | nsv583289 | chr2:149091754-149170115 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
6 | nsv875277 | chr2:149094415-149178974 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
7 | nsv875278 | chr2:149094415-149201775 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
8 | nsv875279 | chr2:149111470-149201775 | Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
9 | nsv875280 | chr2:149115432-149198275 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
10 | nsv875281 | chr2:149115432-149206943 | ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
11 | nsv583290 | chr2:149117734-149170115 | ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:149100800-149137000 | Weak transcription | Primary T cells from cord blood | blood |
2 | chr2:149101000-149126000 | Weak transcription | Psoas Muscle | Psoas |
3 | chr2:149102800-149136600 | Weak transcription | Primary B cells from cord blood | blood |
4 | chr2:149116200-149121800 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
5 | chr2:149119000-149121400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
6 | chr2:149119000-149121800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
7 | chr2:149120400-149121800 | Weak transcription | Fetal Intestine Small | intestine |
8 | chr2:149120400-149128800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |