Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:79903729-79903973	HepG2	liver:	n/a	n/a
2	MAZ	chr5:79903828-79903875	HepG2	liver:	n/a	n/a
3	FOXA1	chr5:79903691-79904082	HepG2	liver:	n/a	n/a
4	RUNX3	chr5:79903707-79904114	GM12878	blood:	n/a	n/a
5	FOXA1	chr5:79903562-79904097	HepG2	liver:	n/a	n/a
6	RAD21	chr5:79903816-79903960	HepG2	liver:	n/a	n/a
7	ELF1	chr5:79903751-79904073	HepG2	liver:	n/a	n/a
8	NFYB	chr5:79903633-79904003	GM12878	blood:	n/a	n/a
9	BATF	chr5:79903692-79904084	GM12878	blood:	n/a	chr5:79903905-79903916
10	MAFK	chr5:79903482-79903901	HepG2	liver:	n/a	chr5:79903564-79903580
11	IRF4	chr5:79903660-79904147	GM12878	blood:	n/a	n/a
12	SPI1	chr5:79903752-79903958	GM12878	blood:	n/a	n/a
13	HNF4A	chr5:79903603-79903973	HepG2	liver:	n/a	chr5:79903815-79903830
14	FOXA1	chr5:79903673-79904088	HepG2	liver:	n/a	n/a
15	BATF	chr5:79903672-79904079	GM12878	blood:	n/a	chr5:79903905-79903916
16	HNF4A	chr5:79903708-79904061	HepG2	liver:	n/a	chr5:79903815-79903830
17	ATF2	chr5:79903635-79904100	GM12878	blood:	n/a	n/a
18	FOXA2	chr5:79903657-79904009	HepG2	liver:	n/a	n/a
19	ELF1	chr5:79903612-79904011	HepG2	liver:	n/a	n/a
20	MAFK	chr5:79903522-79903957	HepG2	liver:	n/a	chr5:79903564-79903580
21	SPI1	chr5:79903729-79904020	GM12891	blood:	n/a	n/a
22	SMC3	chr5:79903737-79903912	HepG2	liver:	n/a	n/a
23	FOXA1	chr5:79903639-79903958	HepG2	liver:	n/a	n/a
24	ELF1	chr5:79903701-79904024	GM12878	blood:	n/a	n/a
25	RUNX3	chr5:79903719-79904095	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79898740..79900890-chr5:79903364..79906205,2	MCF-7	breast:

Variant related genes	Relation type
DBIP2	TF binding region
ENSG00000251366	Chromatin interaction

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11951283	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951910	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1222809	1.00[ASN][1000 genomes]
rs1232027	0.92[ASN][1000 genomes]
rs13185915	1.00[ASN][1000 genomes]
rs1643635	1.00[ASN][1000 genomes]
rs59724253	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60186226	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv513244	chr5:79900666-79904808	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73125358	DHFR	cis	Whole Blood	GTEx
rs73125358	ANKRD34B	cis	Whole Blood	GTEx
rs73125358	DHFR	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79899400-79910200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:79902400-79916600	Weak transcription	Thymus	Thymus
3	chr5:79902600-79904000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:79902600-79904200	Enhancers	Liver	Liver
5	chr5:79902800-79904800	Enhancers	HepG2	liver
6	chr5:79903600-79904000	Flanking Active TSS	GM12878-XiMat	blood
7	chr5:79903600-79904000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:79903600-79905000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:79903600-79905000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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