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:20)

rs_ID	r²[population]
rs11118589	0.87[ASN][1000 genomes]
rs1690714	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs2184936	0.80[CHB][hapmap]
rs2994525	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337153	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs337154	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs366414	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs369049	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs381106	0.84[CEU][hapmap]
rs383681	0.88[EUR][1000 genomes]
rs3849288	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]
rs405196	0.83[EUR][1000 genomes]
rs414838	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs416735	0.88[EUR][1000 genomes]
rs426020	0.85[EUR][1000 genomes]
rs438597	0.84[CEU][hapmap]
rs442236	0.84[CEU][hapmap]
rs774132	0.90[CEU][hapmap]
rs774145	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs774146	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2069044	C1orf115	cis	Esophagus Muscularis	GTEx
rs2069044	C1orf115	Cis_1M	lymphoblastoid	RTeQTL
rs2069044	MOSC2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220829400-220847200	Weak transcription	Right Ventricle	heart
2	chr1:220845800-220846200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:220845800-220848000	Enhancers	Fetal Heart	heart
4	chr1:220846000-220846200	Bivalent Enhancer	Small Intestine	intestine

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