Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55300705..55303430-chr14:55305101..55307686,2	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10151058	1.00[ASN][1000 genomes]
rs11845908	1.00[ASN][1000 genomes]
rs11845954	1.00[ASN][1000 genomes]
rs11847254	1.00[ASN][1000 genomes]
rs1354	1.00[ASN][1000 genomes]
rs17128008	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17253584	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17253591	0.85[CEU][hapmap]
rs17671005	0.85[CEU][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs17671485	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17738863	1.00[CEU][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs17739146	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951437	1.00[ASN][1000 genomes]
rs1951438	1.00[ASN][1000 genomes]
rs2004633	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28678578	1.00[ASN][1000 genomes]
rs41298434	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4340245	1.00[ASN][1000 genomes]
rs45454691	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55934565	1.00[ASN][1000 genomes]
rs56924179	0.94[EUR][1000 genomes]
rs61744409	1.00[ASN][1000 genomes]
rs7141175	0.84[CEU][hapmap]
rs7147147	1.00[ASN][1000 genomes]
rs7148831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278735	1.00[ASN][1000 genomes]
rs73278772	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7493025	0.99[EUR][1000 genomes]
rs8016944	1.00[ASN][1000 genomes]

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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17738966	EXOC5	cis	cerebellum	SCAN
rs17738966	PYGL	cis	cerebellum	SCAN
rs17738966	TBPL2	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55293800-55306400	Weak transcription	Aorta	Aorta
2	chr14:55299200-55308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55300400-55305800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:55301000-55305600	Enhancers	Liver	Liver
5	chr14:55301000-55305800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:55301000-55310000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:55301800-55306000	Enhancers	HepG2	liver
8	chr14:55301800-55306400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:55302200-55303200	Weak transcription	Fetal Intestine Small	intestine

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