Variant report

Variant	rs285553
Chromosome Location	chr12:41927544-41927545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11180971	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs169564	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2446145	0.82[EUR][1000 genomes]
rs2468312	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2599254	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2608698	0.82[EUR][1000 genomes]
rs2608699	0.82[EUR][1000 genomes]
rs2608713	0.82[EUR][1000 genomes]
rs2608717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2730812	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2730815	0.82[EUR][1000 genomes]
rs2730825	0.82[EUR][1000 genomes]
rs2730831	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2730832	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2733284	0.82[JPT][hapmap]
rs2733288	0.82[EUR][1000 genomes]
rs285551	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs285552	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285554	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs285559	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs285570	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285571	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285572	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285573	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285574	1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs285576	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs285588	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs285589	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs285591	0.82[EUR][1000 genomes]
rs285594	0.94[EUR][1000 genomes]
rs285596	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs285597	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs287087	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs389166	0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs392217	0.96[EUR][1000 genomes]
rs713288	0.83[CHB][hapmap]

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	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41925600-41949800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:41925800-41944800	Weak transcription	Brain Germinal Matrix	brain

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