Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133232161..133234694-chr6:133238799..133240675,2	K562	blood:
2	chr6:133232577..133234235-chr6:133238890..133241749,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1408065	0.94[CEU][hapmap]
rs271110	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs271111	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs271179	0.94[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2764216	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs374766	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs397139	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs412154	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs413864	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895945	0.80[AMR][1000 genomes]
rs4897619	0.82[AMR][1000 genomes]
rs528694	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7740291	1.00[YRI][hapmap]
rs7768053	0.80[MEX][hapmap]
rs9373033	1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs9375927	0.93[ASW][hapmap];0.88[MEX][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs9385624	1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs9402461	0.80[MEX][hapmap]
rs9402465	0.83[AMR][1000 genomes]
rs9493459	0.84[MEX][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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv869855	chr6:133190265-133244259	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs271112	LOC285735	cis	parietal	SCAN
rs271112	ACA33	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133229200-133233600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:133229400-133233400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:133229400-133239400	Weak transcription	Fetal Lung	lung
4	chr6:133229800-133233400	Weak transcription	Osteobl	bone
5	chr6:133229800-133233600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:133229800-133234000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:133229800-133234200	Weak transcription	NH-A	brain
8	chr6:133229800-133234400	Weak transcription	HSMM	muscle
9	chr6:133230600-133233400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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