Variant report

Variant	rs17043357
Chromosome Location	chr2:115445395-115445396
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1002872	1.00[ASN][1000 genomes]
rs10203323	1.00[ASN][1000 genomes]
rs10211528	1.00[ASN][1000 genomes]
rs12463387	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463533	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478020	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12478101	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12479364	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12711803	1.00[ASN][1000 genomes]
rs13010772	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017277	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022000	1.00[ASN][1000 genomes]
rs13032093	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13386918	1.00[ASN][1000 genomes]
rs13425488	1.00[ASN][1000 genomes]
rs13430153	1.00[ASN][1000 genomes]
rs17040469	0.89[AMR][1000 genomes]
rs17043340	0.89[AMR][1000 genomes]
rs17043351	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17043364	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17729212	1.00[ASN][1000 genomes]
rs17729314	1.00[ASN][1000 genomes]
rs17730230	1.00[ASN][1000 genomes]
rs17786067	1.00[ASN][1000 genomes]
rs35456562	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4569486	1.00[ASN][1000 genomes]
rs71418511	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71418512	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71418517	1.00[ASN][1000 genomes]
rs72955668	1.00[ASN][1000 genomes]
rs7605779	1.00[ASN][1000 genomes]
rs930314	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967034	0.94[AMR][1000 genomes];1.00[ASN][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	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv431502	chr2:115139566-115617936	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv834338	chr2:115320185-115481229	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv431524	chr2:115425650-115530770	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17043357	CRYBB2	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115443000-115445800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:115443200-115446000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:115443600-115445400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:115444000-115445800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:115444000-115446000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:115444200-115448400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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