Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103172799..103178070-chr7:103178210..103181701,6	K562	blood:

Variant related genes	Relation type
ENSG00000189056	Chromatin interaction

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

rs_ID	r²[population]
rs10953388	0.81[ASN][1000 genomes]
rs12536415	0.95[CEU][hapmap];0.81[TSI][hapmap]
rs2075040	0.95[CEU][hapmap];0.81[TSI][hapmap]
rs2229864	0.83[CEU][hapmap];0.86[CHB][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs2237624	0.86[EUR][1000 genomes]
rs2237626	0.82[CEU][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2237627	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2283019	0.85[EUR][1000 genomes]
rs2528862	0.94[CEU][hapmap]
rs2528863	0.83[CEU][hapmap];0.86[CHB][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs2528867	0.86[CHB][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs2528868	0.80[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes]
rs2535760	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2711838	0.82[CEU][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2906634	0.86[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs362707	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs362708	0.84[MKK][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs362709	0.82[CEU][hapmap]
rs362710	0.82[CEU][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs362736	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs362737	0.82[CEU][hapmap];0.94[MEX][hapmap];0.84[MKK][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs362738	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs362739	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

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	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv888923	chr7:103143117-103199719	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Metabolite levels (Pyroglutamine)	23934736	GWAS catalog

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1008126	ORC5L	cis	parietal	SCAN
rs1008126	MOGAT3	cis	cerebellum	SCAN
rs1008126	ZNF655	cis	parietal	SCAN
rs1008126	SLC26A5	cis	cerebellum	SCAN
rs1008126	GIGYF1	cis	cerebellum	SCAN
rs1008126	CUX1	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103158000-103198600	Weak transcription	Liver	Liver
2	chr7:103165000-103179200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:103168400-103181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:103170200-103180000	Weak transcription	K562	blood
5	chr7:103174000-103176000	Strong transcription	HepG2	liver
6	chr7:103174000-103176600	Weak transcription	Brain Anterior Caudate	brain
7	chr7:103174000-103177200	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:103174200-103179400	Weak transcription	Brain Angular Gyrus	brain
9	chr7:103174600-103177200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:103174800-103176800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:103174800-103177000	Weak transcription	Brain Substantia Nigra	brain
12	chr7:103175200-103180600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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