Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38800758..38806200-chr17:38867662..38875106,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073584	Chromatin interaction

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

rs_ID	r²[population]
rs2008469	0.80[ASN][1000 genomes]
rs2109223	0.92[ASN][1000 genomes]
rs2159430	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2253717	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2315020	0.87[ASN][1000 genomes]
rs2429549	0.91[ASN][1000 genomes]
rs2462962	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2462963	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2462964	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2462970	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469818	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4890119	0.80[ASN][1000 genomes]
rs4890122	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58630924	0.90[ASN][1000 genomes]
rs6503549	0.81[ASN][1000 genomes]
rs7209735	0.80[ASN][1000 genomes]
rs7223332	0.81[ASN][1000 genomes]
rs7223354	0.81[ASN][1000 genomes]
rs726848	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758630	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068721	0.80[ASN][1000 genomes]
rs8076587	0.81[ASN][1000 genomes]
rs917593	0.80[ASN][1000 genomes]
rs917595	0.80[ASN][1000 genomes]
rs9896791	0.85[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	nsv431626	chr17:38770965-38999722	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7212255	SMARCE1	Cis_1M	lymphoblastoid	RTeQTL
rs7212255	CCR7	Cis_1M	lymphoblastoid	RTeQTL
rs7212255	KRT222	cis	Nerve Tibial	GTEx
rs7212255	KRT24	cis	Esophagus Mucosa	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38854000-38875800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:38860000-38890200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:38864800-38874800	Weak transcription	Placenta Amnion	Placenta Amnion

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