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	chr22:33171964..33174469-chr22:33174986..33177148,3	MCF-7	breast:
3	chr22:33171797..33172651-chr22:33382185..33382696,2	K562	blood:
4	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:28)

rs_ID	r²[population]
rs130535	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs135150	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2413152	1.00[YRI][hapmap]
rs28409934	1.00[ASN][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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994624	1.00[YRI][hapmap]
rs5994625	0.83[AFR][1000 genomes]
rs5998632	1.00[YRI][hapmap]
rs5998633	1.00[YRI][hapmap]
rs5998634	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs62232860	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62232863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62232899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62232902	0.85[AMR][1000 genomes]
rs62232903	0.80[AMR][1000 genomes]
rs62234595	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62234596	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292199	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs743751	1.00[MEX][hapmap]
rs8136803	1.00[MEX][hapmap]
rs9621562	0.93[ASN][1000 genomes]
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:17 , 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	chr22:33168000-33172200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:33168200-33172400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:33168200-33175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:33169200-33172400	Weak transcription	Thymus	Thymus
6	chr22:33169200-33175400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:33171000-33173000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr22:33171400-33173000	Enhancers	Spleen	Spleen
9	chr22:33171600-33173400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:33171600-33174800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:33171800-33172600	Enhancers	Liver	Liver
12	chr22:33171800-33174200	Enhancers	Fetal Thymus	thymus
13	chr22:33171800-33175000	Enhancers	HepG2	liver
14	chr22:33172000-33172200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr22:33172000-33173000	Enhancers	Adipose Nuclei	Adipose
16	chr22:33172000-33173400	Enhancers	Primary hematopoietic stem cells	blood
17	chr22:33172000-33173600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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