Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48647192..48649423-chr2:48652404..48655156,2	MCF-7	breast:
2	chr2:48652219..48654602-chr2:48666881..48668587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162869	Chromatin interaction
ENSG00000272663	Chromatin interaction

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10186237	0.85[CEU][hapmap]
rs10208627	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10454133	0.88[CEU][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10454134	0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs11676168	0.84[CEU][hapmap]
rs11682931	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11685861	0.81[AMR][1000 genomes]
rs12105983	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13392004	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13399936	0.80[ASN][1000 genomes]
rs13429377	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4274640	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4344965	0.81[AMR][1000 genomes]
rs4411759	0.84[CEU][hapmap]
rs4438532	0.84[JPT][hapmap]
rs4497915	0.84[CEU][hapmap]
rs4606978	0.82[JPT][hapmap]
rs62137015	0.81[AMR][1000 genomes]
rs62137019	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62137041	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6545027	0.81[CEU][hapmap]
rs6545030	0.81[CEU][hapmap]
rs6545036	0.82[AMR][1000 genomes]
rs6545039	0.82[AMR][1000 genomes]
rs6712029	0.80[CEU][hapmap]
rs6735288	0.87[EUR][1000 genomes]
rs6749773	0.88[AMR][1000 genomes]
rs72820474	0.80[ASN][1000 genomes]
rs72820484	0.80[ASN][1000 genomes]
rs7579932	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv524919	chr2:48649738-48658779	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48648000-48655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:48652000-48660200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:48653600-48661200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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