Variant report
Variant | rs12193283 |
---|---|
Chromosome Location | chr6:26494163-26494164 |
allele | A/C |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:10)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:10 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:26493719..26495223-chr6:26508039..26510654,2 | K562 | blood: | |
2 | chr6:26341496..26342438-chr6:26493055..26494222,5 | K562 | blood: | |
3 | chr6:26487017..26489284-chr6:26492809..26495203,2 | MCF-7 | breast: | |
4 | chr6:26341191..26342496-chr6:26493295..26494195,4 | MCF-7 | breast: | |
5 | chr6:26472114..26481394-chr6:26482721..26495847,23 | K562 | blood: | |
6 | chr6:26455977..26458413-chr6:26493219..26496109,2 | K562 | blood: | |
7 | chr6:26424680..26426484-chr6:26492758..26494562,2 | K562 | blood: | |
8 | chr6:26491622..26495206-chr6:26516506..26519658,3 | K562 | blood: | |
9 | chr6:26493704..26495272-chr6:26496094..26498091,2 | K562 | blood: | |
10 | chr6:26337900..26340342-chr6:26493468..26495996,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000112763 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10447390 | 0.81[CEU][hapmap] |
rs10447391 | 0.81[CEU][hapmap] |
rs10456047 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10456331 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10484441 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10807008 | 1.00[CEU][hapmap] |
rs10946820 | 0.81[CEU][hapmap] |
rs10946821 | 0.81[CEU][hapmap] |
rs10946823 | 0.86[CEU][hapmap] |
rs10946824 | 0.86[CEU][hapmap] |
rs10946825 | 0.85[CEU][hapmap] |
rs10946826 | 0.86[CEU][hapmap] |
rs10946827 | 0.81[CEU][hapmap] |
rs10946829 | 0.86[CEU][hapmap] |
rs10946832 | 1.00[CEU][hapmap] |
rs10946842 | 1.00[JPT][hapmap] |
rs1131936 | 0.93[CEU][hapmap] |
rs12191917 | 0.86[CEU][hapmap] |
rs12194001 | 0.83[CEU][hapmap] |
rs12194036 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes] |
rs12194073 | 0.81[CEU][hapmap] |
rs12196371 | 1.00[CEU][hapmap] |
rs12197304 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12198993 | 0.81[CEU][hapmap] |
rs12201546 | 0.86[CEU][hapmap] |
rs12205310 | 1.00[JPT][hapmap] |
rs12206812 | 0.86[CEU][hapmap] |
rs12207930 | 0.86[CEU][hapmap] |
rs12208211 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12208272 | 0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12208788 | 0.93[CEU][hapmap] |
rs12211872 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12214444 | 1.00[CEU][hapmap] |
rs12214486 | 0.81[CEU][hapmap] |
rs12214924 | 0.86[CEU][hapmap] |
rs12661560 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12664899 | 0.93[CEU][hapmap] |
rs17537465 | 0.93[CEU][hapmap] |
rs17539219 | 0.86[CEU][hapmap] |
rs17610161 | 1.00[CEU][hapmap] |
rs17611220 | 0.81[CEU][hapmap] |
rs17611438 | 0.85[CEU][hapmap] |
rs1884945 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2393652 | 0.86[CEU][hapmap] |
rs2393664 | 0.81[CEU][hapmap] |
rs2893845 | 0.86[CEU][hapmap] |
rs2893847 | 0.86[CEU][hapmap] |
rs2893848 | 0.86[CEU][hapmap] |
rs2893849 | 0.93[CEU][hapmap] |
rs2893856 | 0.93[CEU][hapmap] |
rs2893857 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3208734 | 0.81[CEU][hapmap] |
rs3846843 | 0.86[CEU][hapmap] |
rs3846844 | 0.86[CEU][hapmap] |
rs3846847 | 0.81[CEU][hapmap] |
rs3846848 | 0.86[CEU][hapmap] |
rs3846849 | 0.81[CEU][hapmap] |
rs3902051 | 0.93[CEU][hapmap] |
rs4083469 | 0.81[CEU][hapmap] |
rs4609015 | 0.86[CEU][hapmap] |
rs4711108 | 1.00[CEU][hapmap] |
rs4711109 | 0.81[CEU][hapmap] |
rs4711110 | 1.00[CEU][hapmap] |
rs4711111 | 0.81[CEU][hapmap] |
rs4712986 | 0.93[CEU][hapmap] |
rs4712988 | 0.93[CEU][hapmap] |
rs4712990 | 1.00[CEU][hapmap] |
rs4712993 | 0.86[CEU][hapmap] |
rs4712994 | 0.86[CEU][hapmap] |
rs4712996 | 0.86[CEU][hapmap] |
rs4712999 | 0.86[CEU][hapmap] |
rs4713000 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4713001 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4713011 | 1.00[JPT][hapmap] |
rs56034653 | 0.85[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs6456724 | 0.93[CEU][hapmap] |
rs6900725 | 0.86[CEU][hapmap] |
rs6910023 | 0.86[CEU][hapmap] |
rs6912934 | 0.93[CEU][hapmap] |
rs6920986 | 0.86[CEU][hapmap] |
rs6926878 | 0.86[CEU][hapmap] |
rs6928454 | 0.81[CEU][hapmap] |
rs6929846 | 0.86[CEU][hapmap] |
rs72843766 | 0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7355 | 0.93[CEU][hapmap] |
rs7356849 | 0.93[CEU][hapmap] |
rs7744254 | 0.86[CEU][hapmap] |
rs7745238 | 0.81[CEU][hapmap] |
rs7745767 | 0.81[CEU][hapmap] |
rs7751280 | 0.86[CEU][hapmap] |
rs7768108 | 1.00[CEU][hapmap] |
rs7770214 | 0.86[CEU][hapmap] |
rs882010 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs9295690 | 0.81[CEU][hapmap] |
rs9467759 | 0.87[CEU][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1029920 | chr6:25638507-26585842 | Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 1215 gene(s) | inside rSNPs | diseases |
2 | nsv538162 | chr6:25638507-26585842 | Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 1215 gene(s) | inside rSNPs | diseases |
3 | nsv1023453 | chr6:25853830-26528250 | Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 1201 gene(s) | inside rSNPs | diseases |
4 | nsv482836 | chr6:26352883-26520964 | Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
5 | nsv482407 | chr6:26369320-26550148 | Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 62 gene(s) | inside rSNPs | diseases |
6 | nsv1031938 | chr6:26467182-26501897 | Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:26491600-26495800 | Enhancers | K562 | blood |
2 | chr6:26491600-26501600 | Weak transcription | GM12878-XiMat | blood |
3 | chr6:26492000-26494400 | Weak transcription | Fetal Intestine Small | intestine |
4 | chr6:26493400-26494800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
5 | chr6:26493600-26494400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
6 | chr6:26493600-26500400 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
7 | chr6:26493800-26494400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |