Variant report

Variant	rs2426529
Chromosome Location	chr20:53148309-53148310
allele	C/G
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	chr20:53146553..53148462-chr20:53150458..53152861,2	MCF-7	breast:
3	chr20:53131035..53133953-chr20:53146900..53149514,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10485786	0.82[CHB][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs16999731	0.85[ASN][1000 genomes]
rs16999736	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs16999764	0.82[CEU][hapmap]
rs2426521	0.81[ASN][1000 genomes]
rs2426522	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2426525	0.98[ASN][1000 genomes]
rs2426526	0.96[ASN][1000 genomes]
rs2426530	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2426531	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs2426535	1.00[ASN][1000 genomes]
rs2426536	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57402636	1.00[ASN][1000 genomes]
rs6014049	0.92[AMR][1000 genomes]
rs6014050	1.00[CEU][hapmap]
rs6023341	0.92[EUR][1000 genomes]
rs6023342	0.92[EUR][1000 genomes]
rs6023344	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6091909	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs6098044	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs6098064	0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6098074	0.85[CEU][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes]
rs67854575	0.92[EUR][1000 genomes]
rs726770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7272302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7274532	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276924	0.98[ASN][1000 genomes]
rs8117905	0.87[AMR][1000 genomes]
rs8126261	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs974461	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917433	1.00[CEU][hapmap]

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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53120800-53148800	Weak transcription	Left Ventricle	heart
2	chr20:53129600-53149200	Weak transcription	Aorta	Aorta
3	chr20:53145600-53148600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:53147800-53149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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