Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83619924..83621935-chr15:83742474..83744523,2	MCF-7	breast:
2	chr15:83739821..83742746-chr15:83743126..83746658,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103942	Chromatin interaction

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

rs_ID	r²[population]
rs10400812	0.87[EUR][1000 genomes]
rs12899522	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12904695	0.91[EUR][1000 genomes]
rs12906626	0.85[EUR][1000 genomes]
rs12907032	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12913130	0.87[EUR][1000 genomes]
rs13329195	0.89[EUR][1000 genomes]
rs13329269	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2084839	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2381030	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3087804	0.87[EUR][1000 genomes]
rs61375537	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6603044	0.88[EUR][1000 genomes]
rs6603046	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7163516	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7166645	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7170547	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7172665	0.90[EUR][1000 genomes]
rs7177599	0.90[EUR][1000 genomes]
rs7181169	0.87[EUR][1000 genomes]
rs750214	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8040457	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8040998	0.89[EUR][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	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3338509	chr15:83740748-83744946	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12439782	BTBD1	cis	Skin Sun Exposed Lower leg	GTEx
rs12439782	BTBD1	cis	Nerve Tibial	GTEx
rs12439782	HDGFRP3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83744200-83745400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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