Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103081624..103084608-chr4:103098581..103101497,2	MCF-7	breast:
2	chr4:103046022..103047684-chr4:103082977..103085283,2	K562	blood:

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

rs_ID	r²[population]
rs12640056	0.80[CEU][hapmap]
rs151385	0.83[EUR][1000 genomes]
rs151386	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs151479	0.87[EUR][1000 genomes]
rs151480	0.89[EUR][1000 genomes]
rs151481	0.89[EUR][1000 genomes]
rs151498	0.90[EUR][1000 genomes]
rs151499	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17031983	0.80[CEU][hapmap]
rs189328	0.89[EUR][1000 genomes]
rs236761	0.94[EUR][1000 genomes]
rs236762	0.89[EUR][1000 genomes]
rs236768	0.94[EUR][1000 genomes]
rs236769	0.81[EUR][1000 genomes]
rs236770	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs236775	0.89[EUR][1000 genomes]
rs236776	0.88[EUR][1000 genomes]
rs236777	0.89[EUR][1000 genomes]
rs236778	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs236779	0.89[EUR][1000 genomes]
rs236780	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs238477	0.86[EUR][1000 genomes]
rs238478	0.88[EUR][1000 genomes]
rs6842661	0.80[CEU][hapmap]

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	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv879682	chr4:102859835-103088491	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs236781	HDHD2	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103072400-103084800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:103079800-103084600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:103084200-103085400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:103084200-103085600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:103084200-103085800	Enhancers	K562	blood
6	chr4:103084200-103090600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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