Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190961093..190962994-chr2:190963522..190966113,2	K562	blood:

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]
rs55680126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55867429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58093950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60577390	1.00[EUR][1000 genomes]
rs73978912	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978915	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978917	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978929	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	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190954800-190970400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:190959600-190970400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:190961000-190966000	Weak transcription	Aorta	Aorta
4	chr2:190963800-190966600	Enhancers	Fetal Intestine Small	intestine
5	chr2:190964400-190966200	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:190964600-190965600	Enhancers	Colon Smooth Muscle	Colon
7	chr2:190964800-190967400	Weak transcription	Right Atrium	heart
8	chr2:190965000-190966400	Enhancers	Fetal Intestine Large	intestine
9	chr2:190965200-190965800	Weak transcription	Fetal Stomach	stomach

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