Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106209506..106211048-chr4:106628344..106630398,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138780	Chromatin interaction
ENSG00000138785	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs57520418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57729291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58428131	0.95[AFR][1000 genomes]
rs59479204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60382101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60786079	0.85[AFR][1000 genomes]
rs60834172	1.00[EUR][1000 genomes]
rs6811468	1.00[EUR][1000 genomes]
rs72950501	0.85[AFR][1000 genomes]
rs72952305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72952324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72952331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72952343	1.00[EUR][1000 genomes]
rs72955116	1.00[EUR][1000 genomes]
rs72955127	1.00[EUR][1000 genomes]
rs72955137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72961197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72961199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963046	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv879698	chr4:106155751-106309224	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106198600-106211800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:106202400-106211600	Weak transcription	HSMMtube	muscle
3	chr4:106210200-106211200	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr4:106210400-106211400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:106210600-106211200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:106210600-106211400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:106210800-106211200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:106210800-106211200	Enhancers	NHEK	skin

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