Variant report

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs169564	0.92[EUR][1000 genomes]
rs2468312	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2599254	0.92[EUR][1000 genomes]
rs2608717	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2730812	0.92[EUR][1000 genomes]
rs2730831	0.92[EUR][1000 genomes]
rs2730832	0.92[EUR][1000 genomes]
rs285551	0.92[EUR][1000 genomes]
rs285552	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs285553	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs285554	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs285558	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs285559	0.91[EUR][1000 genomes]
rs285570	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs285571	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs285572	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs285573	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs285574	0.90[ASN][1000 genomes]
rs285588	0.92[EUR][1000 genomes]
rs285589	0.87[AMR][1000 genomes]
rs285594	0.90[EUR][1000 genomes]
rs285596	0.91[EUR][1000 genomes]
rs285597	0.92[EUR][1000 genomes]
rs287087	0.92[EUR][1000 genomes]
rs389166	0.89[ASN][1000 genomes]
rs392217	0.92[EUR][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	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41916000-41927400	Weak transcription	Aorta	Aorta
2	chr12:41916200-41922000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:41916400-41924600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:41916400-41925200	Weak transcription	Brain Anterior Caudate	brain
5	chr12:41921000-41924600	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:41921200-41922400	Enhancers	HSMMtube	muscle
7	chr12:41921400-41922000	Enhancers	HSMM	muscle
8	chr12:41921400-41922400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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