Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21229520..21231366-chr7:21232704..21235455,2	K562	blood:

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

rs_ID	r²[population]
rs17143942	0.90[ASN][1000 genomes]
rs17143975	0.87[EUR][1000 genomes]
rs17143998	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1881960	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2390479	0.81[ASN][1000 genomes]
rs2893031	0.90[ASN][1000 genomes]
rs3934483	0.90[ASN][1000 genomes]
rs4072217	0.90[ASN][1000 genomes]
rs4490733	0.90[ASN][1000 genomes]
rs55885414	0.90[ASN][1000 genomes]
rs56383835	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58258104	0.90[ASN][1000 genomes]
rs58641677	0.90[ASN][1000 genomes]
rs59562853	0.81[ASN][1000 genomes]
rs59592870	0.90[ASN][1000 genomes]
rs60656967	0.81[ASN][1000 genomes]
rs61249337	0.90[ASN][1000 genomes]
rs61520146	0.90[ASN][1000 genomes]
rs61552779	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73279571	0.90[ASN][1000 genomes]
rs73279573	0.90[ASN][1000 genomes]
rs73279575	0.90[ASN][1000 genomes]
rs73685044	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789062	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3478244	chr7:21044211-21417347	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3478245	chr7:21044211-21417347	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1020852	chr7:21060791-21375050	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv538799	chr7:21060791-21375050	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1029455	chr7:21215293-21233752	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21224800-21233200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:21225800-21233200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:21230000-21232800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:21230400-21233000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr7:21231400-21233600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:21231800-21233400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:21232000-21233400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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