Variant report

Variant	rs12283240
Chromosome Location	chr11:120559953-120559954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10502240	0.81[CEU][hapmap]
rs10790393	0.81[CEU][hapmap];0.88[MEX][hapmap]
rs10790394	0.81[CEU][hapmap]
rs10892593	0.81[CEU][hapmap]
rs10892595	0.81[CEU][hapmap]
rs10892596	0.81[CEU][hapmap]
rs10892599	0.81[CEU][hapmap]
rs10892600	0.81[CEU][hapmap]
rs10892603	0.81[CEU][hapmap]
rs10892604	0.81[CEU][hapmap]
rs10892605	0.81[CEU][hapmap]
rs10892611	0.81[CEU][hapmap]
rs10892613	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10892614	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10892615	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10892616	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217955	0.81[CEU][hapmap]
rs11217958	0.80[CEU][hapmap]
rs11217959	0.81[CEU][hapmap]
rs11217962	0.84[CEU][hapmap]
rs11217965	0.81[CEU][hapmap]
rs11217970	0.81[CEU][hapmap];0.88[MEX][hapmap]
rs11217972	0.81[CEU][hapmap]
rs11603586	0.81[CEU][hapmap]
rs11607732	0.81[CEU][hapmap]
rs12224951	0.88[CEU][hapmap]
rs12225752	0.81[CEU][hapmap]
rs12270261	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12280296	0.83[GIH][hapmap];0.90[LWK][hapmap]
rs12281001	1.00[CEU][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281008	1.00[CEU][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12284730	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286467	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12287882	1.00[CEU][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292552	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12293509	1.00[ASN][1000 genomes]
rs12294046	1.00[CEU][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295113	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12360673	0.81[CEU][hapmap];0.88[MEX][hapmap]
rs4628679	0.81[CEU][hapmap]
rs61901363	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61901370	1.00[ASN][1000 genomes]
rs61901376	1.00[ASN][1000 genomes]
rs61901378	1.00[ASN][1000 genomes]
rs61902683	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61902689	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7102869	1.00[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	nsv1054407	chr11:120535570-120630114	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3693392	chr11:120549745-120628012	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12283240	RNF214	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120553800-120562400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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