Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106243397..106246288-chr12:106248499..106250437,2	K562	blood:
2	chr12:106248554..106253147-chr12:106253796..106257710,5	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11112783	1.00[EUR][1000 genomes]
rs11834687	1.00[EUR][1000 genomes]
rs12302856	1.00[EUR][1000 genomes]
rs12307329	1.00[EUR][1000 genomes]
rs1421437	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17037459	1.00[EUR][1000 genomes]
rs17037622	1.00[EUR][1000 genomes]
rs17037729	0.91[ASN][1000 genomes]
rs17037733	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17037736	1.00[EUR][1000 genomes]
rs17037741	1.00[EUR][1000 genomes]
rs17037742	1.00[EUR][1000 genomes]
rs17037760	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17037763	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17038030	1.00[EUR][1000 genomes]
rs35997774	1.00[EUR][1000 genomes]
rs55817027	1.00[ASN][1000 genomes]
rs56123105	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57275238	1.00[EUR][1000 genomes]
rs57321476	1.00[EUR][1000 genomes]
rs57454138	1.00[EUR][1000 genomes]
rs57687607	1.00[EUR][1000 genomes]
rs58650564	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60384264	1.00[EUR][1000 genomes]
rs60604017	1.00[EUR][1000 genomes]
rs718790	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7307022	1.00[EUR][1000 genomes]
rs73383202	1.00[EUR][1000 genomes]
rs73391241	1.00[EUR][1000 genomes]
rs7963779	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][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	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106245000-106250800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:106248800-106249800	Enhancers	Fetal Muscle Leg	muscle
3	chr12:106249000-106249800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:106249000-106250200	Enhancers	Adipose Nuclei	Adipose
5	chr12:106249200-106249800	Enhancers	Left Ventricle	heart
6	chr12:106249400-106249800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:106249400-106249800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:106249400-106256800	Weak transcription	HSMMtube	muscle

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