Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118617035..118619644-chr3:118623950..118626298,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11927719	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12487299	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12489856	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1474231	0.81[AFR][1000 genomes]
rs1521293	0.80[AFR][1000 genomes]
rs1581374	0.83[AFR][1000 genomes]
rs16829163	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2110368	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2110369	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2160052	0.91[EUR][1000 genomes]
rs2215811	0.91[EUR][1000 genomes]
rs2866317	0.90[EUR][1000 genomes]
rs36052974	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58464946	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765168	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6782002	0.81[AFR][1000 genomes]
rs6795936	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6802658	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73183699	0.91[EUR][1000 genomes]
rs73185803	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7610212	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9821861	0.84[AFR][1000 genomes]
rs9848979	0.91[EUR][1000 genomes]
rs9854506	0.91[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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 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	chr3:118612200-118625600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:118619800-118651400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:118620200-118627200	Weak transcription	Fetal Brain Female	brain
4	chr3:118620200-118663200	Weak transcription	Pancreas	Pancrea
5	chr3:118621400-118626800	Weak transcription	A549	lung
6	chr3:118621800-118630200	Weak transcription	Brain Germinal Matrix	brain
7	chr3:118622000-118644600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:118623000-118628800	Weak transcription	Brain Angular Gyrus	brain
9	chr3:118623400-118627200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:118623400-118627400	Weak transcription	Brain Substantia Nigra	brain
11	chr3:118623400-118628400	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:118623400-118628400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:118623400-118628800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:118623400-118629200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:118624000-118631200	Weak transcription	Brain Anterior Caudate	brain
16	chr3:118624600-118626600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:118625200-118627800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:118625400-118631200	Weak transcription	Ovary	ovary
19	chr3:118625400-118639800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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