Variant report

Variant	rs16867867
Chromosome Location	chr5:15971850-15971851
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:15971634..15973484-chr5:15977480..15979036,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10037390	1.00[EUR][1000 genomes]
rs10041092	1.00[EUR][1000 genomes]
rs10475070	1.00[EUR][1000 genomes]
rs13357073	1.00[EUR][1000 genomes]
rs1354183	1.00[EUR][1000 genomes]
rs16867861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16867864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17525353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1875547	0.93[EUR][1000 genomes]
rs1875548	1.00[EUR][1000 genomes]
rs59174236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59606669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62348114	1.00[AMR][1000 genomes]
rs62348126	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62348127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62348128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62348129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62348130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62348131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62348154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62348155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62348156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62348157	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62348158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62348504	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62348505	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62348508	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62349962	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73040691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709814	1.00[EUR][1000 genomes]
rs993537	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830216	chr5:15860662-16060420	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv427712	chr5:15883439-16055856	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16867867	CRYBB2	trans	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15969200-15972200	Enhancers	Fetal Heart	heart
2	chr5:15970400-15981000	Weak transcription	Right Ventricle	heart
3	chr5:15971000-15972600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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