Variant report
Variant | rs12470955 |
---|---|
Chromosome Location | chr2:148863885-148863886 |
allele | G/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 | chr2:148862754..148865628-chr2:148893706..148895344,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs1015096 | 0.83[ASN][1000 genomes] |
rs10178849 | 0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10199458 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10207309 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10497029 | 0.82[EUR][1000 genomes] |
rs11886876 | 0.87[ASN][1000 genomes] |
rs11896010 | 0.87[ASN][1000 genomes] |
rs11902430 | 0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12053401 | 0.85[ASN][1000 genomes] |
rs12105411 | 0.88[ASN][1000 genomes] |
rs12469509 | 0.83[EUR][1000 genomes] |
rs12691772 | 0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs12691773 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12691774 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12691775 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12691776 | 0.83[EUR][1000 genomes] |
rs12691777 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs12691778 | 0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12691779 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs12989250 | 0.87[ASN][1000 genomes] |
rs12992231 | 0.85[ASN][1000 genomes] |
rs12992412 | 0.84[ASN][1000 genomes] |
rs12995413 | 0.83[ASN][1000 genomes] |
rs12997165 | 0.86[ASN][1000 genomes] |
rs13006721 | 0.83[EUR][1000 genomes] |
rs13007770 | 0.83[ASN][1000 genomes] |
rs13008838 | 0.85[ASN][1000 genomes] |
rs13013887 | 0.81[EUR][1000 genomes] |
rs13014936 | 0.84[ASN][1000 genomes] |
rs13015552 | 0.83[EUR][1000 genomes] |
rs13015655 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13021605 | 0.87[ASN][1000 genomes] |
rs13022962 | 0.85[ASN][1000 genomes] |
rs13028348 | 0.85[ASN][1000 genomes] |
rs13029714 | 0.83[EUR][1000 genomes] |
rs13032303 | 0.83[EUR][1000 genomes] |
rs13032810 | 0.86[ASN][1000 genomes] |
rs13035475 | 0.85[ASN][1000 genomes] |
rs1449959 | 0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1598207 | 0.89[ASN][1000 genomes] |
rs16828270 | 0.83[EUR][1000 genomes] |
rs16828354 | 0.82[EUR][1000 genomes] |
rs1823447 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1901014 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1975748 | 0.81[ASN][1000 genomes] |
rs2084578 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2122386 | 0.83[EUR][1000 genomes] |
rs2168145 | 0.85[ASN][1000 genomes] |
rs2382211 | 0.83[EUR][1000 genomes] |
rs2890915 | 0.87[ASN][1000 genomes] |
rs35283425 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4001 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4417662 | 0.87[ASN][1000 genomes] |
rs4436897 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4972321 | 0.86[ASN][1000 genomes] |
rs4972322 | 0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs4972329 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4972332 | 0.83[EUR][1000 genomes] |
rs6430281 | 0.89[ASN][1000 genomes] |
rs6430282 | 0.84[ASN][1000 genomes] |
rs6430285 | 0.85[ASN][1000 genomes] |
rs6430286 | 0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs6430289 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6430292 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6430295 | 0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs6711686 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6714672 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs6724719 | 0.89[ASN][1000 genomes] |
rs6729804 | 0.81[ASN][1000 genomes] |
rs6730641 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs6732463 | 0.89[ASN][1000 genomes] |
rs6746415 | 0.89[ASN][1000 genomes] |
rs7425436 | 0.80[ASN][1000 genomes] |
rs7560425 | 0.87[ASN][1000 genomes] |
rs7568811 | 0.83[EUR][1000 genomes] |
rs7569780 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs7574180 | 0.83[EUR][1000 genomes] |
rs7592576 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7595067 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7595286 | 0.83[EUR][1000 genomes] |
rs7604592 | 0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs897172 | 0.83[ASN][1000 genomes] |
rs9789434 | 0.83[ASN][1000 genomes] |
rs9789640 | 0.81[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv916286 | chr2:148438001-148977722 | Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
2 | nsv529388 | chr2:148471340-148934846 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
3 | nsv1002358 | chr2:148703807-148942372 | Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
4 | nsv1007683 | chr2:148717347-148942372 | Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
5 | nsv535971 | chr2:148717347-148942372 | Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
6 | nsv817366 | chr2:148727068-148879681 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
7 | nsv1000852 | chr2:148730825-148934986 | Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
8 | nsv535972 | chr2:148730825-148934986 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
9 | nsv916766 | chr2:148743880-148955720 | Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
10 | nsv1001339 | chr2:148755022-149020866 | Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
11 | nsv535977 | chr2:148755022-149020866 | Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
12 | nsv1014570 | chr2:148780080-148869729 | Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
13 | nsv535978 | chr2:148780080-148869729 | Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
14 | nsv869146 | chr2:148787051-149060763 | Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
15 | nsv875276 | chr2:148844369-148996824 | ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
16 | nsv1004431 | chr2:148859099-149054114 | Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
17 | nsv997674 | chr2:148862630-148995570 | Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:148837600-148866800 | Weak transcription | Ovary | ovary |
2 | chr2:148845400-148866000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr2:148845400-148868000 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
4 | chr2:148851800-148867600 | Weak transcription | Primary T cells from cord blood | blood |
5 | chr2:148854800-148874000 | Weak transcription | Primary B cells from cord blood | blood |
6 | chr2:148855800-148901000 | Weak transcription | Fetal Intestine Small | intestine |
7 | chr2:148859600-148867000 | Weak transcription | Fetal Brain Male | brain |
8 | chr2:148861200-148889000 | Weak transcription | Aorta | Aorta |
9 | chr2:148862000-148869800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
10 | chr2:148863000-148881600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
11 | chr2:148863800-148864800 | Enhancers | Osteobl | bone |