Variant report

Variant	rs12308444
Chromosome Location	chr12:105660405-105660406
allele	C/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:36)

rs_ID	r²[population]
rs10861369	0.87[CEU][hapmap]
rs11112410	0.82[EUR][1000 genomes]
rs11559871	0.80[EUR][1000 genomes]
rs1196780	1.00[JPT][hapmap]
rs1209637	1.00[JPT][hapmap]
rs12299366	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12299391	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12301914	0.83[ASW][hapmap];0.87[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12304384	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12305766	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12311156	0.87[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs12312965	0.87[CEU][hapmap]
rs12317637	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12317804	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12321199	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12321518	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12321534	1.00[CEU][hapmap];0.91[ASN][1000 genomes]
rs12424191	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12424709	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59320697	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59593474	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60999193	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61480639	0.85[ASN][1000 genomes]
rs7132816	0.82[EUR][1000 genomes]
rs7133728	0.87[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs7300130	0.82[EUR][1000 genomes]
rs7302842	0.87[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs7305406	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73181822	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73181857	0.80[EUR][1000 genomes]
rs73399757	0.93[ASN][1000 genomes]
rs73399760	0.82[ASN][1000 genomes]
rs73399763	0.93[ASN][1000 genomes]
rs7971630	0.87[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs7975787	0.87[CEU][hapmap]
rs7978034	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12308444	KIAA1033	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105652600-105661400	Weak transcription	HSMMtube	muscle
2	chr12:105653400-105661400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:105653400-105661400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:105656600-105661400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:105657200-105661800	Weak transcription	NHDF-Ad	bronchial
6	chr12:105659600-105672200	Weak transcription	Aorta	Aorta

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