Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47984848..47987837-chr1:47992814..47995313,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1024108	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11585530	0.98[EUR][1000 genomes]
rs11588699	0.85[ASN][1000 genomes]
rs11799997	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17103342	0.91[EUR][1000 genomes]
rs17103383	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2102437	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28493519	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs471608	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs478526	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs560540	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56404532	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs578335	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59865928	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60503680	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs635710	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6681140	0.91[EUR][1000 genomes]
rs6688849	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72904553	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72904554	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7531586	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7543243	0.93[EUR][1000 genomes]
rs822886	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47976000-47989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47984200-47988200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:47986200-47987600	Enhancers	Stomach Mucosa	stomach
4	chr1:47986600-47987600	Enhancers	Right Atrium	heart
5	chr1:47986600-47988200	Enhancers	Aorta	Aorta
6	chr1:47986600-47988800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:47986600-47988800	Enhancers	Fetal Kidney	kidney
8	chr1:47986600-47989200	Enhancers	Liver	Liver
9	chr1:47986800-47987600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:47986800-47987800	Enhancers	Osteobl	bone
11	chr1:47986800-47989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:47987000-47987600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:47987000-47987600	Bivalent Enhancer	Fetal Stomach	stomach
14	chr1:47987200-47987800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:47987200-47989200	Weak transcription	Pancreas	Pancrea
16	chr1:47987400-47987600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:47987400-47987600	Bivalent Enhancer	HSMMtube	muscle
18	chr1:47987400-47987800	Active TSS	Spleen	Spleen
19	chr1:47987400-47987800	Enhancers	NH-A	brain

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