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
ENSG00000185666	Chromatin interaction
ENSG00000128276	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs129305	1.00[JPT][hapmap]
rs130527	1.00[JPT][hapmap]
rs130528	1.00[JPT][hapmap]
rs130529	1.00[JPT][hapmap]
rs130531	0.82[EUR][1000 genomes]
rs130535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130547	0.90[JPT][hapmap]
rs130554	0.90[JPT][hapmap]
rs130558	0.90[JPT][hapmap]
rs135150	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]
rs2413152	1.00[YRI][hapmap]
rs2413153	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs4821103	1.00[YRI][hapmap]
rs4992163	1.00[YRI][hapmap]
rs5754267	1.00[YRI][hapmap]
rs5754270	1.00[YRI][hapmap]
rs5754279	1.00[YRI][hapmap]
rs58431752	0.83[AFR][1000 genomes]
rs5994624	1.00[YRI][hapmap]
rs5994625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998632	1.00[YRI][hapmap]
rs5998633	1.00[YRI][hapmap]
rs62232863	0.83[AFR][1000 genomes]
rs62232899	0.83[AFR][1000 genomes]
rs80267	0.90[JPT][hapmap]
rs978808	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

No data

Chromatin state (count:12 , 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	chr22:33165800-33169800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:33166600-33169200	Enhancers	Thymus	Thymus
5	chr22:33167200-33169200	Enhancers	Dnd41	blood
6	chr22:33167200-33169400	Enhancers	Fetal Thymus	thymus
7	chr22:33167400-33169800	Enhancers	Fetal Muscle Leg	muscle
8	chr22:33168000-33169600	Weak transcription	Right Atrium	heart
9	chr22:33168000-33172200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:33168200-33172400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:33168200-33175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:33168600-33172000	Weak transcription	Adipose Nuclei	Adipose

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