Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179095589..179097417-chr2:179099252..179101022,2	K562	blood:

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

rs_ID	r²[population]
rs10930827	0.81[JPT][hapmap]
rs170791	0.82[EUR][1000 genomes]
rs333996	0.93[JPT][hapmap]
rs333999	0.80[EUR][1000 genomes]
rs334005	0.93[JPT][hapmap]
rs334007	0.93[JPT][hapmap]
rs334017	0.93[JPT][hapmap]
rs334024	0.81[JPT][hapmap]
rs334028	0.80[JPT][hapmap]
rs334037	0.87[JPT][hapmap]
rs334040	0.87[CEU][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs334042	0.91[CEU][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs334043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334044	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334045	0.91[CEU][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs334102	0.86[JPT][hapmap]
rs334103	0.86[JPT][hapmap]
rs334110	0.86[JPT][hapmap]
rs7419749	0.81[JPT][hapmap]
rs7581504	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs334041	CWC22	cis	parietal	SCAN
rs334041	LOC100130691	cis	cerebellum	SCAN
rs334041	FKBP7	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179079000-179101200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:179091000-179106400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:179091200-179101200	Weak transcription	Psoas Muscle	Psoas
4	chr2:179091200-179115000	Weak transcription	Aorta	Aorta
5	chr2:179092200-179102400	Weak transcription	NHDF-Ad	bronchial
6	chr2:179092800-179098200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:179095200-179098200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:179095600-179097800	Weak transcription	NHEK	skin
9	chr2:179096200-179098000	Weak transcription	HMEC	breast
10	chr2:179097200-179098000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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