Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17552744..17555558-chr21:17617002..17619158,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215386	Chromatin interaction

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

rs_ID	r²[population]
rs1533	1.00[CEU][hapmap]
rs1534	1.00[CEU][hapmap]
rs1626109	1.00[CEU][hapmap]
rs16994832	1.00[CEU][hapmap]
rs171188	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238973	1.00[CEU][hapmap]
rs238980	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs238983	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs238984	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs238988	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238991	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs238992	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs238993	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823648	1.00[CEU][hapmap]
rs2823672	1.00[CEU][hapmap]
rs2823676	1.00[CEU][hapmap]
rs2823677	1.00[CEU][hapmap]
rs2823679	1.00[CEU][hapmap]
rs2823682	1.00[CEU][hapmap]
rs2823683	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8131686	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	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17584400-17619400	Weak transcription	Hela-S3	cervix
2	chr21:17598000-17622200	Weak transcription	Ovary	ovary
3	chr21:17598000-17622400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:17606200-17622200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:17612600-17618800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:17614000-17620600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr21:17614400-17622400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:17614400-17622600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:17614600-17617200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:17616000-17617400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:17616000-17618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:17616000-17621800	Weak transcription	Brain Substantia Nigra	brain

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