Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:25661025..25663705-chr7:25665924..25668424,2	K562	blood:

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

rs_ID	r²[population]
rs11539443	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151702	1.00[ASN][1000 genomes]
rs17251882	1.00[ASN][1000 genomes]
rs17317200	1.00[ASN][1000 genomes]
rs17367591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17367682	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17464623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17727166	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17783371	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs3857727	1.00[ASN][1000 genomes]
rs55938803	1.00[ASN][1000 genomes]
rs56175323	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56234882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56241258	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56401538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73084000	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73085945	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73085983	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802027	1.00[ASN][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	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv1020230	chr7:25649344-25783071	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv2753233	chr7:25655060-25771160	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25663400-25668800	Enhancers	Fetal Lung	lung
2	chr7:25664200-25667600	Enhancers	Fetal Stomach	stomach
3	chr7:25664800-25669400	Enhancers	Brain Germinal Matrix	brain
4	chr7:25665400-25668000	Weak transcription	Fetal Brain Male	brain
5	chr7:25665400-25672800	Weak transcription	Aorta	Aorta
6	chr7:25665600-25669200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:25665600-25670600	Weak transcription	Right Atrium	heart
8	chr7:25666000-25667800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:25666000-25668400	Weak transcription	Primary B cells from cord blood	blood
10	chr7:25666400-25675600	Weak transcription	Ovary	ovary
11	chr7:25666800-25675600	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:25667200-25668000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:25667400-25668400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:25667400-25668600	Enhancers	HUES48 Cell Line	embryonic stem cell

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