Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:74367543..74369740-chr1:74373309..74376107,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10493526	0.99[EUR][1000 genomes]
rs10493528	0.96[EUR][1000 genomes]
rs11210366	0.84[EUR][1000 genomes]
rs11210368	0.99[EUR][1000 genomes]
rs11210369	1.00[EUR][1000 genomes]
rs11210370	1.00[EUR][1000 genomes]
rs11210372	0.99[EUR][1000 genomes]
rs12062996	1.00[EUR][1000 genomes]
rs12076161	1.00[EUR][1000 genomes]
rs12077198	1.00[EUR][1000 genomes]
rs12081389	0.99[EUR][1000 genomes]
rs12082647	0.99[EUR][1000 genomes]
rs12096018	0.84[EUR][1000 genomes]
rs12120978	0.84[EUR][1000 genomes]
rs12130770	0.84[EUR][1000 genomes]
rs12137774	0.96[EUR][1000 genomes]
rs12138557	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1340434	0.84[EUR][1000 genomes]
rs17521189	1.00[EUR][1000 genomes]
rs1768649	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1768652	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2733260	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2803131	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28890229	0.82[EUR][1000 genomes]
rs7544238	0.95[EUR][1000 genomes]
rs7544252	1.00[EUR][1000 genomes]
rs7550937	0.99[EUR][1000 genomes]
rs9660534	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004451	chr1:74107125-74874389	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv534999	chr1:74107125-74874389	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1398	chr1:74353390-74398380	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2763561	chr1:74362009-74396896	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74373000-74375800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:74373000-74375800	Weak transcription	HMEC	breast
3	chr1:74374800-74375600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:74374800-74376200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:74375400-74376600	Flanking Active TSS	Dnd41	blood

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