Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190973606..190975234-chr2:191744756..191746803,2	K562	blood:

Variant related genes	Relation type
ENSG00000115419	Chromatin interaction
ENSG00000235852	Chromatin interaction

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

rs_ID	r²[population]
rs10169078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10804032	1.00[ASN][1000 genomes]
rs11687019	1.00[EUR][1000 genomes]
rs12617421	1.00[ASN][1000 genomes]
rs13411862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357722	1.00[ASN][1000 genomes]
rs4241289	1.00[EUR][1000 genomes]
rs55867429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58093950	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60577390	1.00[EUR][1000 genomes]
rs73978912	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978923	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978929	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978935	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785227	1.00[EUR][1000 genomes]
rs785249	1.00[EUR][1000 genomes]
rs785269	1.00[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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190966200-190975600	Weak transcription	Psoas Muscle	Psoas
2	chr2:190970800-190985400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:190971400-190975400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:190974200-190974800	Enhancers	Brain Anterior Caudate	brain
5	chr2:190974200-190974800	Enhancers	Brain Substantia Nigra	brain
6	chr2:190974200-190976400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:190974200-190976600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:190974400-190975600	Enhancers	NH-A	brain
9	chr2:190974400-190975800	Enhancers	Osteobl	bone
10	chr2:190974400-190976400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:190974400-190976400	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:190974400-190976400	Enhancers	Brain Hippocampus Middle	brain

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