Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55678554..55682853-chr14:55737022..55740091,3	K562	blood:

Variant related genes	Relation type
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10129161	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10132875	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10133915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10134838	0.92[JPT][hapmap]
rs10135156	1.00[CEU][hapmap]
rs10138259	0.85[JPT][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes]
rs10138286	1.00[CEU][hapmap]
rs10138395	0.93[JPT][hapmap]
rs10141323	1.00[EUR][1000 genomes]
rs10498473	1.00[CEU][hapmap]
rs13379052	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17128417	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs1971474	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2296490	1.00[EUR][1000 genomes]
rs2340932	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2340935	0.90[ASN][1000 genomes]
rs28405981	1.00[EUR][1000 genomes]
rs2879891	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3742567	0.82[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap]
rs3759668	1.00[EUR][1000 genomes]
rs6573008	0.92[CHB][hapmap]
rs6650507	1.00[EUR][1000 genomes]
rs7151339	1.00[EUR][1000 genomes]
rs7157768	1.00[EUR][1000 genomes]
rs7159490	0.92[CHB][hapmap]
rs73271796	1.00[EUR][1000 genomes]
rs73273623	1.00[EUR][1000 genomes]
rs8009660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8019707	1.00[CEU][hapmap]
rs8021306	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs9323280	0.83[CHB][hapmap];0.87[JPT][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	nsv1035158	chr14:55638386-55684228	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55679800-55684800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:55679800-55685200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:55679800-55685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:55680200-55685600	Weak transcription	NHEK	skin
5	chr14:55680400-55685000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:55680400-55685000	Weak transcription	HMEC	breast

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