Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12047918..12050097-chr2:12107041..12109541,2	K562	blood:
2	chr2:12080014..12082829-chr2:12105758..12108452,2	K562	blood:

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

rs_ID	r²[population]
rs10520110	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11901062	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2716629	0.86[ASN][1000 genomes]
rs2716642	0.86[ASN][1000 genomes]
rs55643286	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55821055	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57404562	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58122677	0.87[ASN][1000 genomes]
rs58851677	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59826552	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59883742	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61152861	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62115038	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62115039	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62115042	0.85[ASN][1000 genomes]
rs62115045	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62115052	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115054	0.90[ASN][1000 genomes]
rs6733012	0.90[ASN][1000 genomes]
rs73915877	0.99[EUR][1000 genomes];0.94[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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12103200-12108000	Weak transcription	Left Ventricle	heart
2	chr2:12103200-12108000	Weak transcription	Right Atrium	heart
3	chr2:12105800-12108000	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:12106200-12108000	Enhancers	K562	blood
5	chr2:12107000-12108400	Enhancers	Fetal Lung	lung
6	chr2:12107000-12109200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:12107400-12110600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:12107600-12109200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:12107600-12109200	Enhancers	Fetal Heart	heart
10	chr2:12107800-12108200	Enhancers	Brain Germinal Matrix	brain
11	chr2:12107800-12108800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:12107800-12109000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:12107800-12109000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:12107800-12110800	Enhancers	HMEC	breast
15	chr2:12107800-12110800	Enhancers	NHEK	skin

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