Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:125766671..125769138-chr4:125772617..125775217,3	MCF-7	breast:
2	chr4:125764608..125767385-chr4:125861503..125863790,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10031582	0.83[ASN][1000 genomes]
rs10518453	0.98[ASN][1000 genomes]
rs1112007	0.98[ASN][1000 genomes]
rs1156517	0.81[ASN][1000 genomes]
rs11943658	0.89[ASN][1000 genomes]
rs13101993	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13109378	0.89[ASN][1000 genomes]
rs13111027	0.84[ASN][1000 genomes]
rs13113484	0.89[ASN][1000 genomes]
rs13119552	0.93[ASN][1000 genomes]
rs13124340	0.93[ASN][1000 genomes]
rs13124562	0.98[ASN][1000 genomes]
rs13133825	0.86[ASN][1000 genomes]
rs13137556	0.93[ASN][1000 genomes]
rs1395330	0.98[ASN][1000 genomes]
rs17008674	0.93[ASN][1000 genomes]
rs17008677	0.98[ASN][1000 genomes]
rs2036203	0.81[ASN][1000 genomes]
rs2055273	0.84[ASN][1000 genomes]
rs28427235	0.84[ASN][1000 genomes]
rs313997	0.84[ASN][1000 genomes]
rs34078885	0.89[ASN][1000 genomes]
rs34813358	0.93[ASN][1000 genomes]
rs35452496	0.93[ASN][1000 genomes]
rs35728397	0.93[ASN][1000 genomes]
rs36040717	0.93[ASN][1000 genomes]
rs55741225	0.93[ASN][1000 genomes]
rs56138521	0.93[ASN][1000 genomes]
rs57205016	0.93[ASN][1000 genomes]
rs58445385	0.90[ASN][1000 genomes]
rs58661679	0.89[ASN][1000 genomes]
rs61231754	0.84[ASN][1000 genomes]
rs66521462	0.89[ASN][1000 genomes]
rs6830179	0.84[ASN][1000 genomes]
rs6840646	0.89[ASN][1000 genomes]
rs71610103	0.89[ASN][1000 genomes]
rs72916676	0.89[ASN][1000 genomes]
rs73848114	0.89[ASN][1000 genomes]
rs7672230	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv879883	chr4:125732734-125767985	Enhancers ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4834006	ANKRD50	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125763600-125767400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125765800-125767800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:125767200-125768200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:125767200-125768400	Enhancers	NHEK	skin

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