Variant report
Variant | rs7712364 |
---|---|
Chromosome Location | chr5:60418506-60418507 |
allele | A/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 | chr5:60417821..60420681-chr5:60456901..60458465,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000188725 | Chromatin interaction |
ENSG00000251279 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10064187 | 0.91[ASN][1000 genomes] |
rs10076937 | 0.86[ASN][1000 genomes] |
rs1038144 | 0.91[ASN][1000 genomes] |
rs10471502 | 0.88[ASN][1000 genomes] |
rs10514906 | 1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11744756 | 0.91[ASN][1000 genomes] |
rs11957772 | 0.88[ASN][1000 genomes] |
rs124898 | 0.94[ASN][1000 genomes] |
rs12518865 | 0.88[ASN][1000 genomes] |
rs12522154 | 0.86[ASN][1000 genomes] |
rs13155076 | 0.86[ASN][1000 genomes] |
rs13168191 | 0.88[ASN][1000 genomes] |
rs1382914 | 0.88[ASN][1000 genomes] |
rs158564 | 0.88[ASN][1000 genomes] |
rs158570 | 0.91[ASN][1000 genomes] |
rs158571 | 0.86[ASN][1000 genomes] |
rs158696 | 0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs158697 | 0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs158699 | 0.93[CEU][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs158700 | 0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs158914 | 0.86[ASN][1000 genomes] |
rs158915 | 0.86[ASN][1000 genomes] |
rs158918 | 0.91[ASN][1000 genomes] |
rs158919 | 0.86[ASN][1000 genomes] |
rs158922 | 0.86[ASN][1000 genomes] |
rs158923 | 0.88[ASN][1000 genomes] |
rs158924 | 0.88[ASN][1000 genomes] |
rs158927 | 0.91[ASN][1000 genomes] |
rs158929 | 0.91[ASN][1000 genomes] |
rs158931 | 0.86[ASN][1000 genomes] |
rs158932 | 0.83[ASN][1000 genomes] |
rs158933 | 0.86[ASN][1000 genomes] |
rs158934 | 0.86[ASN][1000 genomes] |
rs158935 | 0.86[ASN][1000 genomes] |
rs158936 | 0.86[ASN][1000 genomes] |
rs158937 | 0.91[ASN][1000 genomes] |
rs158938 | 0.86[ASN][1000 genomes] |
rs159357 | 0.94[ASN][1000 genomes] |
rs159358 | 0.94[ASN][1000 genomes] |
rs159371 | 0.94[ASN][1000 genomes] |
rs159374 | 0.94[ASN][1000 genomes] |
rs159375 | 0.94[ASN][1000 genomes] |
rs159376 | 0.94[ASN][1000 genomes] |
rs159377 | 0.94[ASN][1000 genomes] |
rs159378 | 0.94[ASN][1000 genomes] |
rs159380 | 0.94[ASN][1000 genomes] |
rs162228 | 0.91[ASN][1000 genomes] |
rs162234 | 0.88[ASN][1000 genomes] |
rs162238 | 0.88[ASN][1000 genomes] |
rs162241 | 0.88[ASN][1000 genomes] |
rs162242 | 0.88[ASN][1000 genomes] |
rs162243 | 0.91[ASN][1000 genomes] |
rs162244 | 0.88[ASN][1000 genomes] |
rs162246 | 0.91[ASN][1000 genomes] |
rs162248 | 0.88[ASN][1000 genomes] |
rs162251 | 0.88[ASN][1000 genomes] |
rs168710 | 0.88[ASN][1000 genomes] |
rs16878547 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs16878548 | 0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs169700 | 0.88[ASN][1000 genomes] |
rs172348 | 0.88[ASN][1000 genomes] |
rs172945 | 0.88[ASN][1000 genomes] |
rs1820082 | 0.91[ASN][1000 genomes] |
rs182410 | 0.94[ASN][1000 genomes] |
rs187459 | 0.88[ASN][1000 genomes] |
rs1989653 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2080869 | 0.88[ASN][1000 genomes] |
rs2120954 | 0.97[ASN][1000 genomes] |
rs2120955 | 0.91[ASN][1000 genomes] |
rs2263514 | 0.88[ASN][1000 genomes] |
rs2270822 | 1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs248677 | 0.88[ASN][1000 genomes] |
rs248682 | 0.88[ASN][1000 genomes] |
rs248683 | 0.88[ASN][1000 genomes] |
rs248685 | 0.88[ASN][1000 genomes] |
rs248688 | 0.88[ASN][1000 genomes] |
rs2545475 | 0.94[ASN][1000 genomes] |
rs2545478 | 0.89[ASN][1000 genomes] |
rs2545493 | 0.91[ASN][1000 genomes] |
rs2545503 | 0.94[ASN][1000 genomes] |
rs256375 | 0.94[ASN][1000 genomes] |
rs256376 | 0.94[ASN][1000 genomes] |
rs2590570 | 0.97[ASN][1000 genomes] |
rs2619890 | 0.88[ASN][1000 genomes] |
rs2619893 | 0.88[ASN][1000 genomes] |
rs2650512 | 0.88[ASN][1000 genomes] |
rs2650517 | 0.88[ASN][1000 genomes] |
rs2694518 | 0.91[ASN][1000 genomes] |
rs2694528 | 0.94[ASN][1000 genomes] |
rs2694530 | 0.88[ASN][1000 genomes] |
rs2694531 | 0.88[ASN][1000 genomes] |
rs28407266 | 0.91[ASN][1000 genomes] |
rs290503 | 0.88[ASN][1000 genomes] |
rs290506 | 0.88[ASN][1000 genomes] |
rs290507 | 0.88[ASN][1000 genomes] |
rs290511 | 0.94[ASN][1000 genomes] |
rs290513 | 0.88[ASN][1000 genomes] |
rs290514 | 0.91[ASN][1000 genomes] |
rs290515 | 0.91[ASN][1000 genomes] |
rs2950235 | 0.88[ASN][1000 genomes] |
rs295522 | 0.94[ASN][1000 genomes] |
rs295524 | 0.94[ASN][1000 genomes] |
rs295531 | 0.94[ASN][1000 genomes] |
rs295533 | 0.88[ASN][1000 genomes] |
rs295551 | 0.94[ASN][1000 genomes] |
rs295559 | 0.94[ASN][1000 genomes] |
rs295560 | 0.94[ASN][1000 genomes] |
rs295561 | 0.94[ASN][1000 genomes] |
rs295563 | 0.94[ASN][1000 genomes] |
rs295564 | 0.94[ASN][1000 genomes] |
rs295566 | 0.91[ASN][1000 genomes] |
rs295569 | 0.94[ASN][1000 genomes] |
rs295573 | 0.94[ASN][1000 genomes] |
rs295578 | 0.94[ASN][1000 genomes] |
rs3101879 | 0.88[ASN][1000 genomes] |
rs3108388 | 0.88[ASN][1000 genomes] |
rs329622 | 0.88[ASN][1000 genomes] |
rs329623 | 0.88[ASN][1000 genomes] |
rs329624 | 0.88[ASN][1000 genomes] |
rs329625 | 0.88[ASN][1000 genomes] |
rs329626 | 0.88[ASN][1000 genomes] |
rs34591 | 0.88[ASN][1000 genomes] |
rs34592 | 0.88[ASN][1000 genomes] |
rs34593 | 0.88[ASN][1000 genomes] |
rs34610 | 0.94[ASN][1000 genomes] |
rs34614 | 0.94[ASN][1000 genomes] |
rs34621 | 0.94[ASN][1000 genomes] |
rs34623 | 0.94[ASN][1000 genomes] |
rs34624 | 0.94[ASN][1000 genomes] |
rs34636 | 0.94[ASN][1000 genomes] |
rs34637 | 0.94[ASN][1000 genomes] |
rs34638 | 0.88[ASN][1000 genomes] |
rs34639 | 0.88[ASN][1000 genomes] |
rs34643 | 0.88[ASN][1000 genomes] |
rs34644 | 0.88[ASN][1000 genomes] |
rs35948426 | 0.86[ASN][1000 genomes] |
rs39661 | 0.94[ASN][1000 genomes] |
rs40084 | 0.88[ASN][1000 genomes] |
rs40421 | 0.88[ASN][1000 genomes] |
rs4141502 | 0.88[ASN][1000 genomes] |
rs4235483 | 0.86[ASN][1000 genomes] |
rs4235484 | 0.97[ASN][1000 genomes] |
rs42437 | 0.88[ASN][1000 genomes] |
rs4546327 | 0.91[ASN][1000 genomes] |
rs4647102 | 0.86[ASN][1000 genomes] |
rs4647138 | 0.86[ASN][1000 genomes] |
rs4699967 | 0.88[ASN][1000 genomes] |
rs4700406 | 0.88[ASN][1000 genomes] |
rs4700410 | 0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs56409036 | 0.88[ASN][1000 genomes] |
rs59292447 | 0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs59797139 | 0.83[ASN][1000 genomes] |
rs6862622 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6863749 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6868884 | 0.88[ASN][1000 genomes] |
rs6869073 | 0.94[ASN][1000 genomes] |
rs6869454 | 0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6878124 | 0.88[ASN][1000 genomes] |
rs6886481 | 0.88[ASN][1000 genomes] |
rs6893210 | 0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs723276 | 0.88[ASN][1000 genomes] |
rs7718028 | 1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7723754 | 1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs810883 | 0.94[ASN][1000 genomes] |
rs810884 | 0.94[ASN][1000 genomes] |
rs9291702 | 0.90[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs929780 | 0.91[ASN][1000 genomes] |
rs976080 | 0.97[ASN][1000 genomes] |
rs976581 | 0.91[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv949662 | chr5:60047974-60488379 | Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
2 | nsv869065 | chr5:60180775-60428760 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
3 | nsv598314 | chr5:60374912-60459040 | Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | diseases |
4 | nsv1034038 | chr5:60375328-60607654 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | diseases |
5 | nsv1028884 | chr5:60414723-60732779 | Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 46 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:60381000-60419400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr5:60395400-60428200 | Weak transcription | HSMMtube | muscle |
3 | chr5:60396800-60420400 | Weak transcription | Ovary | ovary |
4 | chr5:60398400-60418800 | Weak transcription | Primary hematopoietic stem cells | blood |
5 | chr5:60398800-60453800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
6 | chr5:60402800-60420600 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
7 | chr5:60408200-60418600 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
8 | chr5:60409600-60418600 | Weak transcription | Fetal Intestine Small | intestine |
9 | chr5:60410400-60418800 | Weak transcription | Gastric | stomach |
10 | chr5:60411200-60420600 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
11 | chr5:60411200-60422400 | Weak transcription | Aorta | Aorta |
12 | chr5:60415600-60421800 | Weak transcription | Esophagus | oesophagus |
13 | chr5:60417200-60449400 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |