Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:39551456..39554409-chr13:39557976..39559586,2	MCF-7	breast:

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

rs_ID	r²[population]
rs1326405	1.00[CEU][hapmap]
rs17059014	1.00[CEU][hapmap]
rs2274384	1.00[CEU][hapmap]
rs3812879	0.85[CEU][hapmap]
rs3922615	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3923129	0.94[ASN][1000 genomes]
rs7317852	1.00[CEU][hapmap]
rs7327748	1.00[CEU][hapmap]
rs7987207	1.00[CEU][hapmap]
rs7997052	1.00[CEU][hapmap]
rs8000175	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8000929	1.00[CEU][hapmap]
rs9548574	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9566383	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9566384	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576666	0.93[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576669	1.00[CEU][hapmap]
rs9576678	1.00[CEU][hapmap]
rs9576679	1.00[CEU][hapmap]
rs9576705	1.00[CEU][hapmap]
rs9576710	1.00[CEU][hapmap]
rs9576711	1.00[CEU][hapmap]

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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1109625	LHFP	cis	cerebellum	SCAN
rs1109625	C13orf23	cis	parietal	SCAN
rs1109625	C13orf23	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39543600-39554600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:39551000-39553800	Weak transcription	Fetal Muscle Leg	muscle
3	chr13:39553600-39553800	Enhancers	Brain Anterior Caudate	brain

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