Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78695308..78697877-chr1:78720943..78723224,2	K562	blood:

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12566056	0.92[EUR][1000 genomes];0.81[ASN][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	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6656584	LHX8	cis	cerebellum	SCAN
rs6656584	IFI44	cis	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78707200-78722600	Weak transcription	Pancreas	Pancrea
2	chr1:78717800-78722000	Enhancers	Hela-S3	cervix
3	chr1:78717800-78722000	Enhancers	NHDF-Ad	bronchial
4	chr1:78718200-78722400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:78718600-78722600	Weak transcription	Lung	lung
6	chr1:78719400-78721400	Weak transcription	Liver	Liver
7	chr1:78719400-78722200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:78719400-78722400	Enhancers	Osteobl	bone
9	chr1:78719600-78722400	Enhancers	HSMM	muscle
10	chr1:78719800-78721400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:78719800-78721600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:78720000-78721400	Enhancers	NHLF	lung
13	chr1:78720000-78722200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:78720000-78722400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:78720200-78722200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:78720800-78721400	Enhancers	HSMMtube	muscle
17	chr1:78720800-78721600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:78721000-78721400	Enhancers	Ovary	ovary
19	chr1:78721000-78723000	Enhancers	Fetal Muscle Leg	muscle
20	chr1:78721200-78722200	Enhancers	Adipose Nuclei	Adipose

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