Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211656956..211658686-chr1:211707478..211709972,2	K562	blood:
2	chr1:211707860..211708360-chr14:24609975..24610530,2	Hela-S3	cervix:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11119763	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119769	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12404900	0.81[ASN][1000 genomes]
rs12405155	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12405191	0.81[ASN][1000 genomes]
rs12406030	0.81[ASN][1000 genomes]
rs12406039	0.81[ASN][1000 genomes]
rs12406055	0.81[ASN][1000 genomes]
rs12408556	0.81[ASN][1000 genomes]
rs12408588	0.81[ASN][1000 genomes]
rs1415249	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1977876	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4951531	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4951768	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57527195	0.81[ASN][1000 genomes]
rs57744575	0.81[ASN][1000 genomes]
rs6662221	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6674800	0.81[ASN][1000 genomes]
rs6679498	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72649976	0.81[ASN][1000 genomes]
rs72649977	0.81[ASN][1000 genomes]
rs72649978	0.80[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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211689400-211715000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:211701600-211711000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:211701800-211712400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:211702600-211711600	Weak transcription	Spleen	Spleen
5	chr1:211703400-211711600	Weak transcription	Esophagus	oesophagus
6	chr1:211703800-211708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:211704400-211710000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:211705200-211714600	Weak transcription	Right Atrium	heart
9	chr1:211705600-211711600	Weak transcription	Fetal Heart	heart
10	chr1:211705600-211714800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:211705600-211714800	Weak transcription	Right Ventricle	heart
12	chr1:211705800-211710600	Weak transcription	K562	blood
13	chr1:211707400-211709600	Enhancers	Liver	Liver
14	chr1:211707800-211708400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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