Variant report

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

rs_ID	r²[population]
rs134529	0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap]
rs134545	0.94[JPT][hapmap]
rs1534884	0.94[LWK][hapmap];1.00[YRI][hapmap]
rs17507045	0.84[LWK][hapmap]
rs1807603	0.83[ASN][1000 genomes]
rs2145161	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs5752743	0.81[CEU][hapmap]
rs5752745	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs5752763	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5752764	0.93[ASN][1000 genomes]
rs5762629	0.91[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs5762665	0.86[ASN][1000 genomes]
rs5762680	0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs5762683	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs5762694	0.93[ASN][1000 genomes]
rs5762713	0.82[LWK][hapmap]
rs5762730	0.95[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs5762734	0.82[LWK][hapmap]
rs5762737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs5762741	0.86[ASN][1000 genomes]
rs5762746	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs738748	0.94[LWK][hapmap];1.00[YRI][hapmap]
rs9625533	0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2180460	CABP7	cis	cerebellum	SCAN
rs2180460	SUSD2	cis	parietal	SCAN
rs2180460	TTC28	cis	cerebellum	SCAN
rs2180460	C22orf13	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28956800-28967200	Weak transcription	NHDF-Ad	bronchial
2	chr22:28956800-28993200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:28962400-28971200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:28964000-28967000	Weak transcription	HepG2	liver

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