Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125870078..125872946-chr8:125880944..125883376,2	K562	blood:
2	chr8:125824915..125827447-chr8:125870554..125873163,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10111331	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10956219	0.90[EUR][1000 genomes]
rs10956220	0.90[EUR][1000 genomes]
rs11774426	0.90[EUR][1000 genomes]
rs11990757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994576	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11994907	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12542397	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12547431	0.90[EUR][1000 genomes]
rs12549299	0.90[EUR][1000 genomes]
rs28446872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28597931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28731447	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4870928	0.89[EUR][1000 genomes]
rs4871558	0.91[EUR][1000 genomes]
rs4871560	0.90[EUR][1000 genomes]
rs6470288	0.88[EUR][1000 genomes]
rs6470289	0.90[EUR][1000 genomes]
rs6470290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470294	0.90[EUR][1000 genomes]
rs6988410	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6992468	0.90[EUR][1000 genomes]
rs7015626	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7460031	0.90[EUR][1000 genomes]
rs7463566	0.90[EUR][1000 genomes]
rs7835994	0.89[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 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	chr8:125869400-125873400	Weak transcription	Right Atrium	heart
2	chr8:125869400-125876400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125869600-125873600	Weak transcription	Right Ventricle	heart
4	chr8:125869800-125873200	Weak transcription	Ovary	ovary
5	chr8:125869800-125873200	Weak transcription	K562	blood
6	chr8:125869800-125873400	Weak transcription	Left Ventricle	heart
7	chr8:125869800-125874000	Weak transcription	Osteobl	bone
8	chr8:125869800-125874400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:125869800-125878200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:125870000-125873400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:125870200-125874000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:125870200-125879000	Weak transcription	Fetal Heart	heart
13	chr8:125870600-125879200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:125871000-125885200	Weak transcription	Esophagus	oesophagus
15	chr8:125871200-125873400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:125871200-125878000	Weak transcription	NHEK	skin
17	chr8:125871600-125878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:125872600-125873000	Enhancers	NHDF-Ad	bronchial
19	chr8:125872600-125875400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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