Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:36585778-36586234	ECC-1	luminal epithelium:	n/a	chr5:36586002-36586013
2	CEBPB	chr5:36585808-36586178	ECC-1	luminal epithelium:	n/a	chr5:36586002-36586013

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36584778..36587591-chr5:36627984..36629667,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242292	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11743024	1.00[JPT][hapmap]
rs13154397	0.86[JPT][hapmap]
rs13155110	1.00[JPT][hapmap]
rs13178449	1.00[ASN][1000 genomes]
rs13179272	1.00[JPT][hapmap]
rs13186061	1.00[ASN][1000 genomes]
rs1366637	1.00[JPT][hapmap]
rs1549687	1.00[ASN][1000 genomes]
rs1549688	1.00[ASN][1000 genomes]
rs1549689	1.00[ASN][1000 genomes]
rs1972737	1.00[ASN][1000 genomes]
rs1972738	1.00[ASN][1000 genomes]
rs2562567	0.89[ASN][1000 genomes]
rs2731916	1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34000615	1.00[ASN][1000 genomes]
rs35016936	1.00[ASN][1000 genomes]
rs35678434	0.92[ASN][1000 genomes]
rs4421130	1.00[ASN][1000 genomes]
rs56011137	0.94[ASN][1000 genomes]
rs71588446	1.00[ASN][1000 genomes]
rs7445592	1.00[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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881025	chr5:36575021-36613053	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2731914	SLC1A3	cis	Thyroid	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36583800-36586200	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr5:36584200-36586400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:36584600-36587600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:36584800-36586200	Enhancers	Brain Substantia Nigra	brain
5	chr5:36584800-36586400	Enhancers	Adipose Nuclei	Adipose
6	chr5:36584800-36590400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:36584800-36590800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:36585200-36590600	Weak transcription	Brain Anterior Caudate	brain
9	chr5:36585400-36590800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:36585600-36586400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:36585600-36586400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:36585800-36586000	Enhancers	Thymus	Thymus
13	chr5:36585800-36586800	Enhancers	Monocytes-CD14+_RO01746	blood

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