Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33168456-33177374	H1-hESC	embryonic stem cell:	embryo
2	22:32740683-32750950..22:33168456-33177374	K562	blood:

Variant related genes	Relation type
ENSG00000128276	Chromatin interaction
ENSG00000185666	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs129305	0.92[JPT][hapmap]
rs130527	0.92[JPT][hapmap]
rs130528	0.92[JPT][hapmap]
rs130529	0.81[GIH][hapmap];0.92[JPT][hapmap]
rs130531	0.82[EUR][1000 genomes]
rs130535	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[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130547	0.85[JPT][hapmap]
rs130554	0.85[JPT][hapmap]
rs130558	0.85[JPT][hapmap]
rs2413152	1.00[YRI][hapmap]
rs2413153	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4821103	0.88[MKK][hapmap];1.00[YRI][hapmap]
rs4992163	0.85[MKK][hapmap];1.00[YRI][hapmap]
rs5754264	0.82[YRI][hapmap]
rs5754267	1.00[YRI][hapmap]
rs5754270	1.00[YRI][hapmap]
rs5754279	1.00[YRI][hapmap]
rs58431752	0.81[AFR][1000 genomes]
rs5994624	1.00[YRI][hapmap]
rs5994625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998632	0.88[MKK][hapmap];1.00[YRI][hapmap]
rs5998633	1.00[YRI][hapmap]
rs5998634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62232863	0.81[AFR][1000 genomes]
rs62232899	0.81[AFR][1000 genomes]
rs80267	0.85[JPT][hapmap]
rs80272	0.85[MEX][hapmap];0.82[TSI][hapmap]
rs978808	0.88[MKK][hapmap];1.00[YRI][hapmap]
rs978809	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061384	chr22:33165464-33191811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs135150	SMTN	cis	parietal	SCAN
rs135150	DRG1	cis	parietal	SCAN
rs135150	SFI1	cis	cerebellum	SCAN
rs135150	MTMR3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:33158400-33171800	Weak transcription	HepG2	liver
3	chr22:33168000-33172200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:33168200-33172400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:33168200-33175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:33168600-33172000	Weak transcription	Adipose Nuclei	Adipose
7	chr22:33169200-33172400	Weak transcription	Thymus	Thymus
8	chr22:33169200-33175400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr22:33170000-33171800	Weak transcription	Fetal Thymus	thymus

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