Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175037331..175039889-chr1:175047402..175050144,2	K562	blood:

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

rs_ID	r²[population]
rs11577778	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11578942	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11578961	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11582121	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11583313	0.99[EUR][1000 genomes]
rs12059398	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065394	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12068982	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12076122	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16847779	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17302688	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17374668	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2269647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55808408	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55967803	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56226643	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59822966	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61541139	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6665471	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6695255	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6703193	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9650986	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012861	chr1:175021780-175063160	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv535210	chr1:175021780-175063160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv3609	chr1:175046412-175094406	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175042400-175050600	Weak transcription	Spleen	Spleen
2	chr1:175043200-175057400	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:175043200-175058600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:175044200-175049400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:175045400-175049200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:175045600-175058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:175046600-175047800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:175047000-175065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:175047800-175048200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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