Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163703768..163706009-chr6:163708926..163711873,3	K562	blood:
2	chr6:163704443..163706752-chr6:163730269..163732204,2	MCF-7	breast:

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

rs_ID	r²[population]
rs13190700	0.80[ASN][1000 genomes]
rs13192154	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13192253	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13192267	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13194634	0.82[ASN][1000 genomes]
rs13194912	0.80[ASN][1000 genomes]
rs13197790	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13198111	0.80[ASN][1000 genomes]
rs13200222	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13200354	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13200617	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13201846	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13202129	0.81[ASN][1000 genomes]
rs13202719	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13204553	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13209061	0.80[ASN][1000 genomes]
rs13214395	0.80[ASN][1000 genomes]
rs13216996	0.80[ASN][1000 genomes]
rs13217534	0.81[ASN][1000 genomes]
rs13219871	0.80[ASN][1000 genomes]
rs13219986	0.94[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs13220528	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13220802	0.80[ASN][1000 genomes]
rs233	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1026490	chr6:163133433-163705708	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv605188	chr6:163697439-163772096	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17470751	QKI	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163686000-163706000	Weak transcription	Brain Angular Gyrus	brain
2	chr6:163701400-163705800	Weak transcription	Brain Anterior Caudate	brain
3	chr6:163701800-163731200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:163702400-163710000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:163704800-163705600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr6:163705000-163706200	Enhancers	HUVEC	blood vessel
7	chr6:163705000-163706800	Enhancers	HSMMtube	muscle
8	chr6:163705200-163705600	Enhancers	Left Ventricle	heart
9	chr6:163705200-163705800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:163705200-163705800	Enhancers	Fetal Muscle Leg	muscle
11	chr6:163705200-163706000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:163705200-163708000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr6:163705400-163706000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:163705400-163706400	Weak transcription	Brain Substantia Nigra	brain
15	chr6:163705400-163710200	Weak transcription	Fetal Muscle Trunk	muscle

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