Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93083670..93085677-chr11:93095167..93096893,2	K562	blood:
2	chr11:93074787..93076635-chr11:93084115..93086331,2	K562	blood:

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

rs_ID	r²[population]
rs1456238	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1869914	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1975820	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2259633	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2605574	0.86[ASN][1000 genomes]
rs2605580	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2605581	0.80[EUR][1000 genomes]
rs2658773	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2658775	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2658791	0.81[EUR][1000 genomes]
rs2925355	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925362	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2925938	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019205	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3019206	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3019221	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019222	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020057	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3020073	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3020076	0.80[EUR][1000 genomes]
rs3020083	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56091149	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72972357	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72972364	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv468793	chr11:93068163-93129893	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3019223	CCDC67	cis	Thyroid	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93082400-93089000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:93083400-93086400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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