Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40597862..40599690-chr7:40606345..40608569,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56145015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56320968	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57544160	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57656861	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59757791	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6952715	1.00[EUR][1000 genomes]
rs73689816	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73689817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689818	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689826	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73689827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689828	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73689829	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73689830	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73689831	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73689832	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7783260	1.00[EUR][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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40596000-40608400	Weak transcription	Aorta	Aorta
2	chr7:40603200-40609600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:40604800-40608200	Enhancers	Fetal Heart	heart
4	chr7:40606600-40607200	Flanking Active TSS	Dnd41	blood
5	chr7:40606800-40607200	Enhancers	Thymus	Thymus
6	chr7:40607000-40607200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:40607000-40609800	Weak transcription	HSMM	muscle

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