Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180572677..180575334-chr2:180870803..180873045,2	K562	blood:
2	chr2:180572088..180573677-chr2:180578473..180581358,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163510	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10177883	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13407248	0.83[ASN][1000 genomes]
rs1515294	0.88[EUR][1000 genomes]
rs16866934	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16866936	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866942	0.88[EUR][1000 genomes]
rs16866943	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16866944	0.90[EUR][1000 genomes]
rs16866945	0.91[EUR][1000 genomes]
rs17496658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17499149	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17499156	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964081	0.86[EUR][1000 genomes]
rs56142641	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58143036	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59431424	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61200535	0.88[EUR][1000 genomes]
rs73973703	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs746701	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7582108	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180571600-180577600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180572200-180574400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:180572600-180574600	Weak transcription	Lung	lung
4	chr2:180572600-180582200	Weak transcription	Right Atrium	heart
5	chr2:180572800-180573000	Enhancers	Gastric	stomach

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