Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98966148..98968083-chr2:98968184..98969887,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10172281	0.93[ASN][1000 genomes]
rs10181000	0.98[ASN][1000 genomes]
rs10190679	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210685	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13394706	0.98[ASN][1000 genomes]
rs13408372	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13427344	0.98[ASN][1000 genomes]
rs13428221	0.89[ASN][1000 genomes]
rs17429208	0.98[ASN][1000 genomes]
rs2055591	1.00[ASN][1000 genomes]
rs2102270	0.98[ASN][1000 genomes]
rs2292118	0.91[ASN][1000 genomes]
rs4851953	0.90[EUR][1000 genomes]
rs56320609	0.93[ASN][1000 genomes]
rs60924437	0.97[ASN][1000 genomes]
rs62156263	0.97[ASN][1000 genomes]
rs62156264	0.97[ASN][1000 genomes]
rs6747410	0.90[EUR][1000 genomes]
rs6754222	0.98[ASN][1000 genomes]
rs72819909	0.96[ASN][1000 genomes]
rs72950941	0.80[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:5 , 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	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
3	nsv1010466	chr2:98938886-98998109	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013617	chr2:98943377-99004173	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv960976	chr2:98967643-98973191	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13432099	CNGA3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98964800-98970000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:98965800-98972400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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