Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54956388..54959275-chr2:55046945..55049769,2	MCF-7	breast:
2	chr2:54948698..54952198-chr2:54955157..54959023,4	K562	blood:

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction

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

rs_ID	r²[population]
rs168503	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs168506	0.81[ASN][1000 genomes]
rs168507	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs168508	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17416806	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1821138	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs187124	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs191628	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2567835	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2971889	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs354187	0.85[ASN][1000 genomes]
rs354195	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs354197	0.84[EUR][1000 genomes]
rs354200	0.84[EUR][1000 genomes]
rs354201	0.84[EUR][1000 genomes]
rs354209	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs354213	0.81[ASN][1000 genomes]
rs354214	0.87[EUR][1000 genomes]
rs354236	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs354237	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs354238	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs354243	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58175244	0.89[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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs181348	EML6	cis	Thyroid	GTEx
rs181348	EML6	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54954600-54958600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:54954600-54965000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:54956800-54964800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:54956800-54964800	Weak transcription	HepG2	liver

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