Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98928784..98931139-chr2:98936007..98938261,2	K562	blood:

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

rs_ID	r²[population]
rs10172281	0.98[ASN][1000 genomes]
rs10181000	0.98[ASN][1000 genomes]
rs10190679	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13394706	0.98[ASN][1000 genomes]
rs13408372	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13427344	0.98[ASN][1000 genomes]
rs13428221	0.94[ASN][1000 genomes]
rs13432099	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1466944	0.83[ASN][1000 genomes]
rs17429208	0.98[ASN][1000 genomes]
rs2055591	0.96[ASN][1000 genomes]
rs2102270	0.98[ASN][1000 genomes]
rs2292118	0.96[ASN][1000 genomes]
rs4851953	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56320609	0.98[ASN][1000 genomes]
rs60924437	0.97[ASN][1000 genomes]
rs62156263	0.97[ASN][1000 genomes]
rs62156264	0.97[ASN][1000 genomes]
rs6747410	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6754222	0.98[ASN][1000 genomes]
rs72819909	1.00[ASN][1000 genomes]
rs72950941	0.84[AMR][1000 genomes]
rs7571001	0.98[ASN][1000 genomes]
rs7571110	0.98[ASN][1000 genomes]
rs7580008	0.98[ASN][1000 genomes]
rs7586663	0.98[ASN][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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1004082	chr2:98792256-98967681	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535833	chr2:98792256-98967681	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1008645	chr2:98915767-99010743	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10210685	CNGA3	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98936400-98937800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:98936600-98938000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:98937000-98938200	ZNF genes & repeats	Liver	Liver
4	chr2:98937200-98939200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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