Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16460793..16462936-chr11:16464207..16467731,4	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16933090	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17470624	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17554301	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17554911	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4132853	0.81[AMR][1000 genomes]
rs4256940	0.81[AMR][1000 genomes]
rs4375406	0.81[AMR][1000 genomes]
rs4573649	0.81[AMR][1000 genomes]
rs4756846	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4756853	0.81[AMR][1000 genomes]
rs4757400	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55820833	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56030154	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56225716	0.81[AMR][1000 genomes]
rs57463944	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72871370	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72871402	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72873303	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72873307	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72873319	0.81[AMR][1000 genomes]
rs72873332	0.81[AMR][1000 genomes]
rs72873340	0.81[AMR][1000 genomes]
rs72873349	0.81[AMR][1000 genomes]
rs72873376	0.81[AMR][1000 genomes]
rs72873390	0.81[AMR][1000 genomes]
rs72875216	0.81[AMR][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	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv832075	chr11:16391700-16490934	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16461400-16462800	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr11:16461600-16491200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:16461600-16510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:16461800-16463600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:16461800-16466800	Weak transcription	Fetal Heart	heart
6	chr11:16461800-16478000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:16462600-16462800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr11:16462600-16462800	Enhancers	Psoas Muscle	Psoas

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