Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122239018..122239524-chr13:61597692..61598542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12428534	0.84[AMR][1000 genomes]
rs12428563	0.84[AMR][1000 genomes]
rs12864322	0.84[AMR][1000 genomes]
rs12875656	0.84[AMR][1000 genomes]
rs1384851	0.84[AMR][1000 genomes]
rs1384852	0.84[AMR][1000 genomes]
rs1384854	0.84[AMR][1000 genomes]
rs1514551	0.84[AMR][1000 genomes]
rs17051907	0.93[AMR][1000 genomes]
rs17059254	0.89[ASN][1000 genomes]
rs17842629	0.93[AMR][1000 genomes]
rs2090143	0.84[AMR][1000 genomes]
rs34161939	0.84[AMR][1000 genomes]
rs35230287	0.84[AMR][1000 genomes]
rs35451678	0.84[AMR][1000 genomes]
rs35672908	0.84[AMR][1000 genomes]
rs35762112	0.84[AMR][1000 genomes]
rs35811483	0.84[AMR][1000 genomes]
rs4293270	0.93[AMR][1000 genomes]
rs4886298	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886315	0.87[AMR][1000 genomes]
rs4886319	0.87[AMR][1000 genomes]
rs59774285	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832626	chr13:61545191-61698233	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv900242	chr13:61551100-61600601	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3428657	chr13:61596551-61598749	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61584800-61602400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:61596400-61599400	Weak transcription	Fetal Heart	heart
3	chr13:61597800-61598600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr13:61597800-61598800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:61597800-61599400	Enhancers	Brain Hippocampus Middle	brain
6	chr13:61598000-61598800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr13:61598200-61598600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:61598200-61602800	Weak transcription	Brain Anterior Caudate	brain
9	chr13:61598200-61603000	Weak transcription	Brain Substantia Nigra	brain

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