Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220861749..220866307-chr1:220904102..220906861,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162817	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1690714	0.82[AMR][1000 genomes]
rs189231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs234223	0.92[ASN][1000 genomes]
rs337153	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs337154	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs337164	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs337169	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs337170	0.89[EUR][1000 genomes]
rs337172	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs337173	0.89[EUR][1000 genomes]
rs337176	0.83[EUR][1000 genomes]
rs337181	0.83[CEU][hapmap]
rs337183	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs337184	0.89[EUR][1000 genomes]
rs337191	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs369049	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs381106	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs383681	0.81[AMR][1000 genomes]
rs405196	0.80[EUR][1000 genomes]
rs414838	0.81[AMR][1000 genomes]
rs416735	0.82[AMR][1000 genomes]
rs426020	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs438597	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs442236	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs774132	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs774138	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs774134	C1orf115	Cis_1M	lymphoblastoid	RTeQTL
rs774134	C1orf115	cis	Esophagus Muscularis	GTEx
rs774134	MOSC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220901400-220905400	Weak transcription	Liver	Liver
2	chr1:220903600-220904800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:220903600-220904800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:220903600-220907000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:220904000-220905400	Weak transcription	Spleen	Spleen
6	chr1:220904400-220906000	Weak transcription	Small Intestine	intestine

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