Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:39096332..39099018-chr6:39116738..39118509,2	K562	blood:

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

rs_ID	r²[population]
rs12665144	1.00[ASW][hapmap]
rs1366322	0.84[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs1366324	0.81[AMR][1000 genomes]
rs1366325	0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1465570	1.00[ASW][hapmap]
rs1544934	0.81[AMR][1000 genomes]
rs1896681	0.81[AMR][1000 genomes]
rs2162838	0.81[AMR][1000 genomes]
rs2268635	1.00[ASW][hapmap]
rs2281342	1.00[YRI][hapmap]
rs228819	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs228820	0.99[ASN][1000 genomes]
rs228823	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2300612	1.00[ASW][hapmap]
rs2815074	0.83[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2815075	0.81[AMR][1000 genomes]
rs2815079	0.81[AMR][1000 genomes]
rs2815090	1.00[ASW][hapmap]
rs2815092	0.81[JPT][hapmap]
rs412724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs228803	C6orf64	cis	multi-tissue	Pritchard
rs228803	C6orf222	cis	parietal	SCAN
rs228803	C6orf64	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39095400-39099200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:39095600-39099200	Enhancers	NHDF-Ad	bronchial
3	chr6:39097800-39099400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:39098200-39099200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:39098200-39099200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:39098200-39099200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:39098400-39099200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:39098400-39099200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr6:39098400-39099400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:39098600-39099000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:39098600-39099200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:39098600-39099400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:39098600-39099400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:39098600-39099400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:39098800-39099200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr6:39098800-39099200	Enhancers	Brain Germinal Matrix	brain
17	chr6:39098800-39101600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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