Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:221812817..221813738-chr8:53687326..53688171,2	MCF-7	breast:
2	chr1:221812228..221814162-chr1:221815406..221817221,2	K562	blood:
3	chr1:221804015..221806371-chr1:221811621..221813998,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10495169	0.83[EUR][1000 genomes]
rs11118755	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11118757	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11118759	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11118764	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11118772	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11118774	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11118775	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12021531	0.83[EUR][1000 genomes]
rs12039969	0.90[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12117680	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12142838	0.83[EUR][1000 genomes]
rs12564947	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1338077	0.83[EUR][1000 genomes]
rs1538249	0.81[EUR][1000 genomes]
rs1933267	0.91[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4129174	0.91[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs953400	0.90[CEU][hapmap]
rs9658836	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9662660	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9725124	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221811400-221817000	Weak transcription	Brain Germinal Matrix	brain
2	chr1:221811600-221818000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:221813600-221813800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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