Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196484305..196487565-chr1:196489232..196492751,3	K562	blood:
2	chr1:196479196..196481656-chr1:196490730..196492820,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10754188	0.84[ASN][1000 genomes]
rs10801537	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10801539	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10922071	0.89[EUR][1000 genomes]
rs10922073	0.85[ASN][1000 genomes]
rs10922075	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10922082	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10922083	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10922084	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11576790	0.86[ASN][1000 genomes]
rs11807331	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12065463	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12065519	0.86[ASN][1000 genomes]
rs12123128	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12562176	0.91[ASN][1000 genomes]
rs1416962	0.85[ASN][1000 genomes]
rs1832617	0.92[ASN][1000 genomes]
rs4618911	0.91[ASN][1000 genomes]
rs4658039	0.91[ASN][1000 genomes]
rs60495441	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61820915	0.89[EUR][1000 genomes]
rs6697795	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72732257	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72732259	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs869257	0.92[ASN][1000 genomes]
rs946755	0.92[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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196480800-196504800	Weak transcription	Liver	Liver
2	chr1:196486200-196491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:196486200-196492200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:196486400-196492000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:196490200-196496000	Weak transcription	H1 Cell Line	embryonic stem cell

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