Variant report

No.	Distal block	Cell Line	Cell type
1	chr16:69563843..69566440-chr16:69590440..69592219,2	K562	blood:
2	chr16:69458413..69461284-chr16:69590262..69592868,2	MCF-7	breast:
3	chr16:69590898..69593139-chr16:69596176..69598406,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103018	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11644997	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549287	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168637	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17298067	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs190282	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1972658	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs244416	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs244419	0.83[AMR][1000 genomes]
rs244422	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs244423	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33060	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs33061	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs33062	0.86[AMR][1000 genomes]
rs33063	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs39999	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4783720	0.89[EUR][1000 genomes]
rs62049971	0.87[AMR][1000 genomes]
rs62049973	0.80[AMR][1000 genomes]
rs62052820	0.96[ASN][1000 genomes]
rs7193778	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7200764	0.80[EUR][1000 genomes]
rs72783110	0.80[AMR][1000 genomes]
rs72783112	0.81[ASN][1000 genomes]
rs8048032	0.83[EUR][1000 genomes]
rs8062941	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1465451	CLEC18A	cis	Whole Blood	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69574600-69597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:69589800-69592400	Weak transcription	GM12878-XiMat	blood
3	chr16:69589800-69596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:69590000-69597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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