Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16656272..16660929-chr21:16661608..16666085,6	MCF-7	breast:
2	chr21:16657185..16659750-chr21:16659806..16661813,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12152049	0.85[EUR][1000 genomes]
rs12483065	0.83[CHB][hapmap]
rs1474513	0.83[CHB][hapmap]
rs1474514	0.83[CHB][hapmap]
rs2823187	0.85[EUR][1000 genomes]
rs2823190	0.85[EUR][1000 genomes]
rs2823193	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823194	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823201	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823206	0.88[ASN][1000 genomes]
rs2823207	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs2823209	0.83[CHB][hapmap]
rs2823211	0.83[CHB][hapmap]
rs2823219	0.83[CHB][hapmap]
rs34759635	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4605448	0.89[ASN][1000 genomes]
rs55715339	0.82[EUR][1000 genomes]
rs926132	0.85[ASN][1000 genomes]
rs9647071	0.88[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs982774	0.83[CHB][hapmap]
rs982775	0.83[CHB][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	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	nsv1056659	chr21:16646531-16709391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16653000-16663600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:16655400-16663000	Weak transcription	HMEC	breast
3	chr21:16656600-16658800	Weak transcription	HSMMtube	muscle
4	chr21:16658200-16663000	Weak transcription	Psoas Muscle	Psoas
5	chr21:16658600-16662600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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