Variant report
Variant | rs4950302 |
---|---|
Chromosome Location | chr1:146557805-146557806 |
allele | A/C |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:14)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:14 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:146555657..146558762-chr1:146628491..146630489,3 | K562 | blood: | |
2 | chr1:146553836..146557884-chr1:146641755..146644199,5 | MCF-7 | breast: | |
3 | chr1:146555458..146558111-chr16:71130666..71132660,2 | K562 | blood: | |
4 | chr1:146554548..146558121-chr1:149223419..149225403,4 | MCF-7 | breast: | |
5 | chr1:146556127..146557844-chr1:146621918..146623666,2 | K562 | blood: | |
6 | chr1:146556287..146558878-chr1:146718178..146719701,2 | K562 | blood: | |
7 | chr1:146550590..146559110-chr1:146711930..146718078,31 | K562 | blood: | |
8 | chr1:146554115..146557849-chr1:146637949..146646936,17 | MCF-7 | breast: | |
9 | chr1:146556237..146558535-chr1:147070551..147072310,2 | K562 | blood: | |
10 | chr1:146510544..146512904-chr1:146555893..146558120,2 | K562 | blood: | |
11 | chr1:146554089..146558005-chr1:146638440..146645674,16 | K562 | blood: | |
12 | chr1:146556283..146558041-chr16:71021213..71022835,2 | K562 | blood: | |
13 | chr1:146554089..146558005-chr1:146640920..146646223,16 | K562 | blood: | |
14 | chr1:144532709..144537146-chr1:146553385..146558827,17 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000131781 | Chromatin interaction |
ENSG00000116128 | Chromatin interaction |
ENSG00000201699 | Chromatin interaction |
ENSG00000131778 | Chromatin interaction |
ENSG00000273071 | Chromatin interaction |
ENSG00000206737 | Chromatin interaction |
ENSG00000131791 | Chromatin interaction |
ENSG00000237188 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10157212 | 0.81[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs11811023 | 0.88[JPT][hapmap] |
rs1596236 | 0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17159924 | 0.88[JPT][hapmap] |
rs17160592 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17355398 | 0.88[JPT][hapmap] |
rs17355509 | 0.88[JPT][hapmap] |
rs17359629 | 0.88[JPT][hapmap] |
rs1867140 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1925343 | 0.81[CHB][hapmap] |
rs2355379 | 0.81[ASN][1000 genomes] |
rs2477568 | 1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2477569 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2477570 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2584952 | 0.80[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2985722 | 0.85[ASN][1000 genomes] |
rs3011803 | 0.85[ASN][1000 genomes] |
rs3011808 | 0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3011809 | 0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3011810 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35227958 | 0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs3766519 | 0.88[JPT][hapmap] |
rs3766520 | 0.88[JPT][hapmap] |
rs3766522 | 0.88[JPT][hapmap] |
rs4492676 | 0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4494193 | 0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4623760 | 0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs492243 | 0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs493000 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs494122 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4950301 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4950303 | 0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4950304 | 0.88[JPT][hapmap] |
rs4950306 | 0.88[JPT][hapmap] |
rs4950308 | 0.88[JPT][hapmap] |
rs4950332 | 0.88[JPT][hapmap] |
rs4950354 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4950355 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4950356 | 0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4950358 | 1.00[CEU][hapmap] |
rs4950359 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4950360 | 0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4950361 | 1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs4950362 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4950364 | 1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4950371 | 0.88[JPT][hapmap] |
rs517201 | 0.81[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes] |
rs524016 | 0.81[CHB][hapmap] |
rs535827 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs551568 | 0.84[EUR][1000 genomes] |
rs556976 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs56060937 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs56359955 | 0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs580852 | 0.85[ASN][1000 genomes] |
rs584107 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs590286 | 0.83[EUR][1000 genomes] |
rs59064267 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs604106 | 0.85[ASN][1000 genomes] |
rs604716 | 1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs618575 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs618622 | 0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs630630 | 0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs632334 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs632861 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs648937 | 0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6593732 | 0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes] |
rs6593733 | 0.81[ASN][1000 genomes] |
rs659728 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs660096 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs660604 | 0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs661116 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6686480 | 0.88[JPT][hapmap] |
rs671690 | 0.85[ASN][1000 genomes] |
rs675782 | 0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs675809 | 0.91[ASN][1000 genomes] |
rs676288 | 0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs678111 | 0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs685741 | 0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs719969 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72704299 | 0.91[ASN][1000 genomes] |
rs72706414 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72706418 | 0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7515160 | 0.88[JPT][hapmap] |
rs7541393 | 0.88[JPT][hapmap] |
rs942689 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9659068 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9663073 | 0.88[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs972368 | 0.88[JPT][hapmap] |
rs976620 | 0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs976621 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs976622 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv2757753 | chr1:145883119-146697542 | Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 96 gene(s) | inside rSNPs | diseases |
2 | nsv872251 | chr1:146152553-146803630 | Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 95 gene(s) | inside rSNPs | diseases |
3 | nsv872252 | chr1:146471863-147398135 | Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 112 gene(s) | inside rSNPs | diseases |
4 | nsv999546 | chr1:146507577-147356574 | Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
5 | nsv535123 | chr1:146507577-147356574 | Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
6 | nsv492188 | chr1:146507649-147381479 | Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
7 | nsv916754 | chr1:146507711-147417736 | Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 113 gene(s) | inside rSNPs | diseases |
8 | nsv547673 | chr1:146510112-147398135 | Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 111 gene(s) | inside rSNPs | diseases |
9 | nsv547674 | chr1:146522722-147396797 | Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 111 gene(s) | inside rSNPs | diseases |
10 | nsv998341 | chr1:146531446-147384720 | Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
11 | nsv535124 | chr1:146531446-147384720 | Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
12 | nsv1003493 | chr1:146531446-147389944 | Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
13 | nsv998209 | chr1:146543722-147384720 | Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
14 | nsv535126 | chr1:146543722-147384720 | Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
15 | nsv872255 | chr1:146550780-146969712 | Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 93 gene(s) | inside rSNPs | diseases |
16 | nsv872256 | chr1:146556596-147410973 | Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 77 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:146557000-146561000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
2 | chr1:146557200-146561000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr1:146557400-146561000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |