Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:30717567..30718089-chr4:30862406..30862959,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1447370	0.87[EUR][1000 genomes]
rs16884077	0.87[EUR][1000 genomes]
rs16884127	0.87[EUR][1000 genomes]
rs16884144	0.87[EUR][1000 genomes]
rs16884156	0.87[EUR][1000 genomes]
rs73213194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73213196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73213199	0.87[EUR][1000 genomes]
rs73213201	0.87[EUR][1000 genomes]
rs73214905	0.87[EUR][1000 genomes]
rs73214907	0.87[EUR][1000 genomes]
rs73214910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73214913	0.87[EUR][1000 genomes]
rs73214915	0.87[EUR][1000 genomes]
rs73214920	0.87[EUR][1000 genomes]
rs73214924	0.87[EUR][1000 genomes]
rs73214926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73214940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73214941	0.87[EUR][1000 genomes]
rs73214946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73214956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73216794	1.00[AMR][1000 genomes];0.87[EUR][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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30849200-30872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:30855200-30879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:30855600-30867400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:30856200-30868600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:30857200-30868200	Weak transcription	Aorta	Aorta
6	chr4:30859400-30864200	Weak transcription	Fetal Lung	lung
7	chr4:30859800-30864200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:30860600-30864800	Weak transcription	Fetal Heart	heart
9	chr4:30861800-30868000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:30862000-30863200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:30862200-30863200	Enhancers	NHEK	skin
12	chr4:30862600-30863000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:30862600-30863000	Enhancers	HMEC	breast
14	chr4:30862600-30867400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:30862800-30870600	Enhancers	Colon Smooth Muscle	Colon

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