Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16407642..16409317-chr21:16733549..16735698,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10211859	0.97[EUR][1000 genomes]
rs17241270	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs2049835	0.97[EUR][1000 genomes]
rs2049882	0.97[EUR][1000 genomes]
rs2091947	0.89[EUR][1000 genomes]
rs2823234	0.89[EUR][1000 genomes]
rs2823235	0.97[EUR][1000 genomes]
rs2823236	0.97[EUR][1000 genomes]
rs2823237	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2823238	0.88[CEU][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs2823239	0.83[EUR][1000 genomes]
rs2823244	0.85[EUR][1000 genomes]
rs28478640	0.96[EUR][1000 genomes]
rs6517383	0.97[EUR][1000 genomes]
rs7278751	0.97[EUR][1000 genomes]
rs7279326	0.93[EUR][1000 genomes]
rs7280494	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs7281880	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs8128176	0.97[EUR][1000 genomes]
rs9980544	0.93[EUR][1000 genomes]
rs9981613	0.85[EUR][1000 genomes]
rs9982882	0.96[EUR][1000 genomes]
rs9982903	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9983155	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1812556	chr21:16690063-16736368	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2823242	TMPRSS15	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16725200-16738200	Weak transcription	HepG2	liver
2	chr21:16731200-16735400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr21:16734000-16736200	Weak transcription	HUVEC	blood vessel

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