Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30251842..30253597-chr13:30255300..30256996,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12870250	0.87[JPT][hapmap]
rs12870927	0.87[JPT][hapmap]
rs17625129	0.82[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2078408	0.86[JPT][hapmap];0.84[YRI][hapmap]
rs3858738	0.89[JPT][hapmap]
rs4769768	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs6490422	0.87[JPT][hapmap]
rs6490423	0.81[EUR][1000 genomes]
rs6490424	0.81[EUR][1000 genomes]
rs7318002	0.81[EUR][1000 genomes]
rs7333892	0.81[EUR][1000 genomes]
rs7337296	0.81[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap]
rs7991022	0.82[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs819103	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9506213	0.83[EUR][1000 genomes]
rs9506214	0.83[EUR][1000 genomes]
rs9506215	0.83[EUR][1000 genomes]
rs9508524	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9508533	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs9508538	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs9508539	0.81[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap]
rs9551713	0.83[EUR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9506220	FAM123A	cis	parietal	SCAN
rs9506220	SHISA2	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30252800-30257600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:30252800-30257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:30253800-30257200	Weak transcription	NHEK	skin
4	chr13:30255000-30262200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:30256200-30258000	Weak transcription	Fetal Brain Male	brain
6	chr13:30256200-30258400	Weak transcription	NHDF-Ad	bronchial
7	chr13:30256400-30258400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:30256400-30259800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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