Variant report

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

rs_ID	r²[population]
rs1009723	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1016659	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10431604	0.83[EUR][1000 genomes]
rs10748323	0.84[EUR][1000 genomes]
rs10785320	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1226303	0.90[CEU][hapmap];0.82[GIH][hapmap]
rs1233988	0.85[EUR][1000 genomes]
rs1234032	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1234034	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1234035	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1234037	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1234038	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1234040	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1234054	0.85[EUR][1000 genomes]
rs1463613	0.90[CEU][hapmap]
rs1628871	0.88[CEU][hapmap]
rs1732351	0.90[CEU][hapmap];0.81[GIH][hapmap]
rs1732352	0.90[CEU][hapmap]
rs2012636	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2091678	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6582378	0.90[CEU][hapmap];0.82[GIH][hapmap]
rs712106	0.90[CEU][hapmap]
rs7303028	0.90[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap]
rs7957081	0.89[EUR][1000 genomes]
rs7958455	0.83[EUR][1000 genomes]
rs7958582	0.81[EUR][1000 genomes]
rs824716	0.90[CEU][hapmap]
rs824724	0.90[CEU][hapmap]
rs824734	0.90[CEU][hapmap];0.82[GIH][hapmap]
rs824738	0.84[CEU][hapmap]
rs844046	0.90[CEU][hapmap]
rs865420	0.90[CEU][hapmap]

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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832387	chr12:42345541-42465505	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1234033	MSL3	trans	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42353600-42355600	Weak transcription	Fetal Intestine Large	intestine
2	chr12:42354200-42357400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:42354400-42355800	Enhancers	Brain Hippocampus Middle	brain
4	chr12:42354400-42356400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:42354400-42356400	Enhancers	Brain Germinal Matrix	brain
6	chr12:42354800-42355800	Enhancers	Brain Cingulate Gyrus	brain
7	chr12:42355000-42356600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:42355200-42356400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:42355400-42361400	Weak transcription	Brain Anterior Caudate	brain

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