Variant report

Variant	rs2426531
Chromosome Location	chr20:53149483-53149484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:53140576..53144414-chr20:53148249..53150515,4	MCF-7	breast:
2	chr20:53149408..53151407-chr20:53151746..53153466,2	MCF-7	breast:
3	chr20:53148405..53152406-chr20:53153631..53156129,3	MCF-7	breast:
4	chr20:53131035..53133953-chr20:53146900..53149514,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10485786	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16999731	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs16999732	0.89[JPT][hapmap]
rs16999736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2426521	0.89[JPT][hapmap]
rs2426522	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2426525	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2426526	0.94[ASN][1000 genomes]
rs2426529	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs2426530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[ASN][1000 genomes]
rs2426535	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2426536	1.00[CHB][hapmap];0.81[YRI][hapmap];0.98[ASN][1000 genomes]
rs57402636	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6023344	0.98[ASN][1000 genomes]
rs6091909	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs6098044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6098064	1.00[CHB][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs726770	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.98[ASN][1000 genomes]
rs7272302	1.00[CHB][hapmap];0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs7274532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs73276924	0.96[ASN][1000 genomes]
rs8126261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs974461	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv1067497	chr20:53146241-53751820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53148600-53149600	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr20:53148600-53150000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:53149000-53151200	Weak transcription	Fetal Brain Female	brain
4	chr20:53149400-53149600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr20:53149400-53150600	Weak transcription	Psoas Muscle	Psoas
6	chr20:53149400-53151200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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