Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:103558002..103560953-chr7:103574688..103576849,2	K562	blood:
2	chr7:103527274..103529840-chr7:103557277..103559784,2	K562	blood:
3	chr7:103556407..103559071-chr7:103628860..103631394,2	K562	blood:
4	chr7:103517969..103520327-chr7:103557139..103559343,2	K562	blood:
5	chr7:103557671..103561484-chr7:103568838..103571877,3	K562	blood:
6	chr7:103527274..103529978-chr7:103557277..103559784,3	K562	blood:

Variant related genes	Relation type
ENSG00000189056	Chromatin interaction

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

rs_ID	r²[population]
rs10231405	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs10245317	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs10272697	0.83[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs10274911	0.88[EUR][1000 genomes]
rs12670967	0.86[EUR][1000 genomes]
rs1476927	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1476928	1.00[CEU][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17157216	0.94[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17157337	0.88[EUR][1000 genomes]
rs2058503	0.89[EUR][1000 genomes]
rs2058504	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs2299401	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs2299403	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs41434053	0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs56406130	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59078884	0.84[EUR][1000 genomes]
rs6465945	0.85[EUR][1000 genomes]
rs73183745	0.81[EUR][1000 genomes]
rs73183748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73183749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73183755	0.88[EUR][1000 genomes]
rs7797395	0.83[CEU][hapmap];0.85[TSI][hapmap];0.88[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	esv1843940	chr7:103421702-103590285	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv523466	chr7:103547135-103567525	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv933391	chr7:103557392-103588539	Weak transcription Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17269500	CYP3A4	cis	cerebellum	SCAN
rs17269500	COPS6	cis	cerebellum	SCAN
rs17269500	AP1S1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103556600-103558800	Enhancers	K562	blood
2	chr7:103556800-103559800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:103556800-103574400	Weak transcription	HepG2	liver

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