Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125798704..125802560-chr8:125827231..125829155,4	K562	blood:
2	chr8:125792724..125795528-chr8:125796094..125800609,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10102575	0.85[EUR][1000 genomes]
rs4871542	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4871549	0.88[EUR][1000 genomes]
rs55764023	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55802810	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55838030	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55861013	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55875518	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55880902	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56172038	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56260476	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56291233	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56325389	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56391929	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59002304	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59042751	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60947347	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73704411	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73704412	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73704439	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[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	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	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 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	chr8:125795200-125801000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:125795800-125802000	Weak transcription	Placenta	Placenta
3	chr8:125796000-125801600	Weak transcription	Primary B cells from cord blood	blood
4	chr8:125796400-125801800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:125797400-125801800	Weak transcription	Left Ventricle	heart
6	chr8:125797400-125801800	Weak transcription	Spleen	Spleen
7	chr8:125797400-125801800	Weak transcription	K562	blood
8	chr8:125797400-125802200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:125798800-125801000	Weak transcription	HepG2	liver
10	chr8:125800000-125801800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:125800000-125801800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:125800000-125803400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:125800000-125803800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:125800200-125801400	Enhancers	HMEC	breast
15	chr8:125800200-125803400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:125800400-125801200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:125800400-125801200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:125800400-125802200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:125800400-125803200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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