Variant report

No.	Distal block	Cell Line	Cell type
1	22:32228866-32235273..22:32819468-32826336	GM12878	blood:
2	22:32264718-32278135..22:32819468-32826336	GM12878	blood:
3	22:32292186-32294405..22:32819468-32826336	GM12878	blood:

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000252909	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11089564	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap]
rs11089565	0.81[ASN][1000 genomes]
rs12163081	0.82[ASN][1000 genomes]
rs16990428	0.91[CHB][hapmap];0.93[CHD][hapmap]
rs16990430	0.91[CHB][hapmap]
rs2014356	0.95[CHB][hapmap]
rs2049946	0.82[CHB][hapmap]
rs2076045	0.91[CHB][hapmap]
rs2076048	0.86[CHB][hapmap]
rs2076049	0.86[CHB][hapmap]
rs2281035	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs2294313	0.86[CHB][hapmap]
rs4140572	0.81[CHB][hapmap]
rs5749416	0.81[CHD][hapmap]
rs5749428	0.81[CHB][hapmap]
rs5749429	0.81[CHB][hapmap]
rs5749432	0.86[CHB][hapmap]
rs5749435	0.91[ASN][1000 genomes]
rs5749436	0.95[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs5749437	0.83[ASN][1000 genomes]
rs5754065	0.81[CHB][hapmap]
rs5754080	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MKK][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5994562	0.82[CHB][hapmap]
rs5998475	0.81[CHB][hapmap]
rs5998478	0.82[CHB][hapmap]
rs713790	0.81[CHB][hapmap]
rs7285033	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs742096	0.81[CHB][hapmap];0.90[CHD][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	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1055701	chr22:32806595-32845403	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1543320	C22orf28	cis	cerebellum	SCAN
rs1543320	NPY1R	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32822400-32823600	Enhancers	Liver	Liver

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