Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83947925..83950662-chr15:83952758..83954987,2	K562	blood:

Variant related genes	Relation type
ENSG00000169594	Chromatin interaction

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

rs_ID	r²[population]
rs12101636	0.94[EUR][1000 genomes]
rs17158059	0.92[EUR][1000 genomes]
rs17841157	0.92[EUR][1000 genomes]
rs28360733	0.80[EUR][1000 genomes]
rs28479708	0.92[EUR][1000 genomes]
rs28523446	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28567531	0.88[EUR][1000 genomes]
rs28707195	0.81[EUR][1000 genomes]
rs7167364	0.88[EUR][1000 genomes]
rs7171743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173876	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72755995	0.88[EUR][1000 genomes]
rs72758306	0.88[EUR][1000 genomes]
rs72758308	0.92[EUR][1000 genomes]
rs72758310	0.92[EUR][1000 genomes]
rs72758313	0.92[EUR][1000 genomes]
rs72758323	0.92[EUR][1000 genomes]
rs72758331	0.94[EUR][1000 genomes]
rs72758350	0.92[EUR][1000 genomes]
rs8026576	0.94[EUR][1000 genomes]
rs9919979	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534418	chr15:83770116-83960718	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28558700	HDGFRP3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83933000-83951200	Weak transcription	HSMMtube	muscle
2	chr15:83933600-83951600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:83933600-83951600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:83945000-83950800	Weak transcription	Osteobl	bone
5	chr15:83945000-83951000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:83945600-83951600	Weak transcription	Esophagus	oesophagus
7	chr15:83947600-83949800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr15:83947600-83950800	Weak transcription	NHDF-Ad	bronchial
9	chr15:83948000-83952400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:83948200-83950800	Genic enhancers	HSMM	muscle
11	chr15:83948600-83949600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:83949200-83950000	Transcr. at gene 5' and 3'	NHEK	skin
13	chr15:83949200-83950800	Flanking Active TSS	HMEC	breast
14	chr15:83949400-83950000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:83949400-83950400	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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