Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:114526776..114528757-chr20:45985728..45987939,2	MCF-7	breast:
2	chr1:114527758..114530714-chr1:114543919..114546492,2	MCF-7	breast:
3	chr1:114527463..114529222-chr1:114530804..114533852,3	MCF-7	breast:
4	chr1:114515711..114517385-chr1:114528473..114530458,2	MCF-7	breast:
5	chr1:114525871..114528123-chr1:114528242..114530523,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270780	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11102704	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs11102712	0.96[ASN][1000 genomes]
rs1158910	0.89[ASN][1000 genomes]
rs1158911	0.89[ASN][1000 genomes]
rs1158912	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12029644	0.96[ASN][1000 genomes]
rs1354373	0.89[ASN][1000 genomes]
rs17032048	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2358997	0.84[ASN][1000 genomes]
rs2358998	0.86[ASN][1000 genomes]
rs2359000	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2884604	0.86[ASN][1000 genomes]
rs2938319	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2938320	0.90[ASN][1000 genomes]
rs3006981	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3006988	0.89[ASN][1000 genomes]
rs3006989	0.89[ASN][1000 genomes]
rs3006996	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006998	0.91[ASN][1000 genomes]
rs3006999	0.91[ASN][1000 genomes]
rs3007002	0.89[ASN][1000 genomes]
rs7520320	0.96[ASN][1000 genomes]
rs924778	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs937672	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114523800-114534600	Weak transcription	Primary T cells from cord blood	blood
2	chr1:114526200-114529600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:114526600-114529400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:114527200-114530000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:114527800-114529800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:114527800-114533000	Weak transcription	HSMMtube	muscle
7	chr1:114528000-114529800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:114528000-114531000	Weak transcription	Right Atrium	heart
9	chr1:114528000-114533400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:114528000-114536600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:114528200-114535800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:114528200-114540800	Weak transcription	Fetal Lung	lung
13	chr1:114528400-114528800	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:114528400-114530000	Strong transcription	Fetal Stomach	stomach
15	chr1:114528600-114529200	ZNF genes & repeats	Fetal Intestine Small	intestine

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