Variant report

No.	Distal block	Cell Line	Cell type
1	chr13:30163838..30166172-chr13:30279497..30282436,2	K562	blood:
2	chr13:30167909..30169969-chr13:30279599..30282032,2	MCF-7	breast:
3	chr13:30277466..30279182-chr13:30280230..30281959,2	MCF-7	breast:
4	chr13:30046194..30046720-chr13:30280067..30280777,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

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

rs_ID	r²[population]
rs12871145	0.91[AMR][1000 genomes]
rs12876062	0.86[AMR][1000 genomes]
rs17073796	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17073799	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1831095	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34102821	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34177704	0.88[AMR][1000 genomes]
rs34622544	0.86[AMR][1000 genomes]
rs34953541	0.83[AMR][1000 genomes]
rs35331003	0.86[AMR][1000 genomes]
rs35933222	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56044395	0.88[AMR][1000 genomes]
rs66982000	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67704126	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73157108	0.85[AMR][1000 genomes]
rs7324224	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7992067	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7996713	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9579458	0.86[AMR][1000 genomes]
rs9579460	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30277400-30280600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:30278800-30281600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:30278800-30283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:30279000-30281200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr13:30279000-30281800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:30279200-30281200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:30279200-30281600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:30279600-30281600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:30279600-30281800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:30280200-30280800	Enhancers	Spleen	Spleen
11	chr13:30280200-30281400	Weak transcription	NHDF-Ad	bronchial
12	chr13:30280200-30282800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:30280400-30284600	Weak transcription	Esophagus	oesophagus

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