Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37756866..37759341-chr6:37763585..37765183,2	K562	blood:
2	chr6:37762868..37765760-chr6:37771569..37774274,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1212636	0.83[ASN][1000 genomes]
rs12198360	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12211975	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12523829	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs259721	0.83[ASN][1000 genomes]
rs259722	0.83[ASN][1000 genomes]
rs259723	0.84[ASN][1000 genomes]
rs4142102	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4711515	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6458030	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67133782	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6926280	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6937655	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72849334	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72849338	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9349051	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9369025	0.99[ASN][1000 genomes]
rs9380703	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9380704	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9470714	0.83[ASN][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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr6:37759200-37768400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:37759600-37766000	Weak transcription	Lung	lung
3	chr6:37759600-37767200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:37759600-37767200	Weak transcription	Right Atrium	heart
5	chr6:37759800-37768600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:37761600-37766200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:37762400-37766000	Enhancers	HepG2	liver
8	chr6:37763400-37766600	Weak transcription	HSMMtube	muscle
9	chr6:37764200-37765600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:37764200-37766400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:37764400-37766600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:37764600-37765600	Weak transcription	Liver	Liver
13	chr6:37764600-37766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:37764600-37766000	Weak transcription	Pancreas	Pancrea

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