Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172528585..172533406-chr2:172536831..172539990,4	K562	blood:
2	chr2:172526794..172530696-chr2:172532860..172536577,3	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11673831	0.88[EUR][1000 genomes]
rs11675891	0.89[EUR][1000 genomes]
rs13016580	0.81[EUR][1000 genomes]
rs13017695	0.83[EUR][1000 genomes]
rs13021138	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1554259	0.80[EUR][1000 genomes]
rs17427311	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17427473	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17499306	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17499502	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17848721	0.81[EUR][1000 genomes]
rs1996424	0.81[EUR][1000 genomes]
rs2138349	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357062	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34108287	0.82[EUR][1000 genomes]
rs34632749	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34962243	0.81[EUR][1000 genomes]
rs35162284	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3770459	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62184174	0.86[EUR][1000 genomes]
rs979955	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997638	chr2:172442205-172560406	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172525000-172529000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:172525400-172529200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:172525600-172528800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:172526800-172529200	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:172527800-172530600	Enhancers	Fetal Lung	lung
6	chr2:172528000-172529000	Weak transcription	Brain Inferior Temporal Lobe	brain

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