Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36791798..36793386-chr5:36796897..36798791,2	K562	blood:

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

rs_ID	r²[population]
rs150501	1.00[AMR][1000 genomes]
rs159435	1.00[AMR][1000 genomes]
rs1669445	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs16903458	0.92[AFR][1000 genomes]
rs192668	0.92[AFR][1000 genomes]
rs192669	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs289217	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs291113	0.84[AFR][1000 genomes]
rs291115	0.87[AFR][1000 genomes]
rs2914148	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2934797	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs293755	1.00[AMR][1000 genomes]
rs293756	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs293757	0.86[AFR][1000 genomes]
rs293776	1.00[ASW][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs298969	0.92[AFR][1000 genomes]
rs468906	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs531988	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60509887	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6891775	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750903	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750918	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750919	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750920	1.00[AMR][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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv527961	chr5:36781051-36828730	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2047593	FCER2	trans	lymphoblastoid	seeQTL
rs2047593	RAB31	trans	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36791400-36795800	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:36791800-36792800	Weak transcription	Psoas Muscle	Psoas
3	chr5:36792400-36793000	Enhancers	HSMMtube	muscle
4	chr5:36792600-36793000	Enhancers	Skeletal Muscle Male	skeletal muscle

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