Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215898927..215901081-chr1:215901908..215904757,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10779659	0.90[JPT][hapmap]
rs10864191	0.91[JPT][hapmap]
rs11120613	0.91[JPT][hapmap]
rs12092733	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12406638	0.91[JPT][hapmap]
rs2364864	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2797213	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs2797216	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2797217	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs2797219	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs2797221	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap]
rs2797257	0.86[JPT][hapmap]
rs2797261	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2820708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2820709	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2820715	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2820716	0.86[JPT][hapmap]
rs2820717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs4233312	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs4330896	0.91[JPT][hapmap]
rs6666832	0.91[JPT][hapmap]
rs6698895	0.91[JPT][hapmap]
rs7540897	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv873171	chr1:215825167-215925167	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv549190	chr1:215903837-215928483	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2797260	FCER2	trans	brain	seeQTL
rs2797260	FAM101B	trans	brain	seeQTL
rs2797260	VGLL4	trans	brain	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215903600-215905600	Enhancers	NHDF-Ad	bronchial
2	chr1:215903800-215904800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:215904000-215905600	Enhancers	Liver	Liver
4	chr1:215904600-215905600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:215904600-215905600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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