Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220843694..220846448-chr1:220920771..220922652,2	K562	blood:

Variant related genes	Relation type
ENSG00000117791	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11118589	0.80[ASN][1000 genomes]
rs1690714	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs2069044	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2994525	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs337153	0.94[CEU][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs337154	0.94[CEU][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs366414	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs369049	0.83[CEU][hapmap]
rs381106	0.83[CEU][hapmap]
rs383681	0.86[EUR][1000 genomes]
rs405196	0.81[EUR][1000 genomes]
rs414838	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs416735	0.86[EUR][1000 genomes]
rs426020	0.83[EUR][1000 genomes]
rs427216	0.82[TSI][hapmap]
rs438597	0.83[CEU][hapmap]
rs442236	0.83[CEU][hapmap]
rs774132	0.89[CEU][hapmap]
rs774145	0.90[EUR][1000 genomes]
rs774146	0.85[EUR][1000 genomes]
rs9431295	0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468194	chr1:220845610-220885612	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv549227	chr1:220845610-220885612	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs3849288	C1orf115	cis	cerebellum	SCAN
rs3849288	MOSC2	Cis_1M	lymphoblastoid	RTeQTL
rs3849288	MOSC2	cis	lymphoblastoid	seeQTL
rs3849288	C1orf115	cis	lymphoblastoid	seeQTL
rs3849288	C1orf115	cis	Esophagus Muscularis	GTEx
rs3849288	C1orf115	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220829400-220847200	Weak transcription	Right Ventricle	heart
2	chr1:220829600-220845800	Weak transcription	Fetal Heart	heart
3	chr1:220831400-220845800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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