Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:50484194..50487347-chr7:50489470..50493667,5	K562	blood:
2	chr7:50484672..50487398-chr7:50490393..50493667,4	K562	blood:
3	chr7:50491516..50493659-chr7:50493993..50496799,2	K562	blood:

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1007702	0.81[AMR][1000 genomes]
rs1007749	0.81[AMR][1000 genomes]
rs11575359	0.81[AMR][1000 genomes]
rs11575400	0.81[AMR][1000 genomes]
rs11575413	0.81[AMR][1000 genomes]
rs11575424	0.81[AMR][1000 genomes]
rs11575425	0.81[AMR][1000 genomes]
rs11575506	0.81[AMR][1000 genomes]
rs12535024	0.81[AMR][1000 genomes]
rs1451370	0.81[AMR][1000 genomes]
rs17665398	0.81[AMR][1000 genomes]
rs17665588	0.81[AMR][1000 genomes]
rs17665670	0.81[AMR][1000 genomes]
rs1817073	0.81[AMR][1000 genomes]
rs1868886	1.00[AMR][1000 genomes]
rs3735276	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4947511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947576	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947580	0.81[AMR][1000 genomes]
rs4947594	0.81[AMR][1000 genomes]
rs4948010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4948197	0.81[AMR][1000 genomes]
rs4948201	0.81[AMR][1000 genomes]
rs4948216	0.81[AMR][1000 genomes]
rs57313968	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592962	0.81[AMR][1000 genomes]
rs6951323	0.81[AMR][1000 genomes]
rs6952938	0.81[AMR][1000 genomes]
rs6953661	0.81[AMR][1000 genomes]
rs6958793	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6959596	0.81[AMR][1000 genomes]
rs6976009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs731689	0.81[AMR][1000 genomes]
rs7792474	0.81[AMR][1000 genomes]
rs7800887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv515738	chr7:50476109-50494207	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50486200-50513200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:50486600-50495000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:50491400-50493400	Enhancers	Fetal Thymus	thymus
4	chr7:50492200-50493400	Enhancers	Thymus	Thymus
5	chr7:50493200-50493400	Enhancers	Fetal Muscle Trunk	muscle

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