Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221054063..221056814-chr1:221077512..221081376,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136630	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1537804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537805	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009074	1.00[EUR][1000 genomes]
rs2484707	1.00[EUR][1000 genomes]
rs2784250	1.00[ASN][1000 genomes]
rs2807862	1.00[ASN][1000 genomes]
rs55955117	1.00[EUR][1000 genomes]
rs56953379	1.00[EUR][1000 genomes]
rs57651577	1.00[EUR][1000 genomes]
rs58040980	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60458871	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60757003	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6682092	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73097473	1.00[EUR][1000 genomes]
rs73102740	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73108360	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73108374	1.00[EUR][1000 genomes]
rs7550867	1.00[EUR][1000 genomes]
rs949994	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs950635	1.00[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4846672	C1orf115	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221076400-221079800	Weak transcription	NHDF-Ad	bronchial
2	chr1:221076600-221079800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:221076800-221079800	Weak transcription	Osteobl	bone
4	chr1:221076800-221080000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:221077400-221080000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:221077400-221080800	Enhancers	Fetal Muscle Leg	muscle
7	chr1:221078600-221080200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:221079200-221081200	Enhancers	Hela-S3	cervix
9	chr1:221079400-221080800	Enhancers	Liver	Liver
10	chr1:221079400-221081000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:221079400-221081200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:221079400-221081200	Enhancers	A549	lung

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