Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:13724511..13727426-chr6:13727934..13730213,2	MCF-7	breast:
2	chr6:13726567..13730349-chr6:13731147..13734427,5	K562	blood:
3	chr6:13327755..13329779-chr6:13727479..13729651,2	K562	blood:
4	chr6:13711035..13715005-chr6:13727821..13730116,3	MCF-7	breast:
5	chr6:13727618..13729518-chr6:13729708..13731514,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145979	Chromatin interaction
ENSG00000010017	Chromatin interaction

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

rs_ID	r²[population]
rs204241	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs204246	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs204247	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs24023	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs368512	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs371729	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs376024	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs379903	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs381560	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs394312	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs396869	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs405447	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs418053	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs420874	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs427140	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs441116	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs441125	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs495572	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs495633	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs571676	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 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	chr6:13720200-13729800	Weak transcription	Esophagus	oesophagus
2	chr6:13724600-13733000	Weak transcription	K562	blood
3	chr6:13726200-13730200	Weak transcription	Osteobl	bone
4	chr6:13726400-13729600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:13726600-13729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:13726800-13729200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:13728200-13730800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:13728400-13731200	Enhancers	NHEK	skin
9	chr6:13728800-13730200	Enhancers	Placenta	Placenta
10	chr6:13729000-13729600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:13729000-13731200	Enhancers	HMEC	breast
12	chr6:13729000-13731800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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