Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67871857..67874448-chr2:67877443..67879298,2	K562	blood:

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17034085	0.86[AFR][1000 genomes]
rs17034113	1.00[ASN][1000 genomes]
rs56206315	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56220757	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56335904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58641922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58847083	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61230444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73936556	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73936557	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73936560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73936566	0.93[AFR][1000 genomes]
rs73936567	0.93[AFR][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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67866800-67884200	Weak transcription	Aorta	Aorta
2	chr2:67875200-67879000	Enhancers	Hela-S3	cervix
3	chr2:67875200-67879200	Enhancers	Fetal Stomach	stomach
4	chr2:67876200-67879000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:67876200-67879000	Enhancers	Colon Smooth Muscle	Colon
6	chr2:67876200-67879000	Enhancers	Fetal Muscle Leg	muscle
7	chr2:67876200-67879000	Enhancers	Ovary	ovary
8	chr2:67876200-67879200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:67876400-67879000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:67876400-67879000	Enhancers	NHDF-Ad	bronchial
11	chr2:67876400-67879400	Enhancers	Brain Germinal Matrix	brain
12	chr2:67876600-67879000	Enhancers	HSMMtube	muscle
13	chr2:67876600-67879000	Enhancers	NH-A	brain
14	chr2:67877200-67879000	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:67877200-67879600	Enhancers	Fetal Lung	lung
16	chr2:67877400-67879000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:67878000-67879000	Enhancers	Fetal Heart	heart
18	chr2:67878400-67879000	Enhancers	Fetal Kidney	kidney
19	chr2:67878600-67879000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:67878600-67879200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:67878800-67879000	Enhancers	Right Ventricle	heart
22	chr2:67878800-67879000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:67878800-67879800	Enhancers	Stomach Smooth Muscle	stomach

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