Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12133614	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs12138223	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs12142460	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs12729173	0.82[EUR][1000 genomes]
rs12732329	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs12751207	1.00[CHB][hapmap]
rs1526511	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs17562236	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1852348	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1852349	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs188127	0.82[EUR][1000 genomes]
rs280894	0.82[EUR][1000 genomes]
rs34806475	0.82[EUR][1000 genomes]
rs3912426	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427227	0.82[EUR][1000 genomes]
rs432933	0.82[EUR][1000 genomes]
rs6689348	0.82[EUR][1000 genomes]
rs6695423	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs71656810	0.82[EUR][1000 genomes]
rs7524020	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs795569	0.82[EUR][1000 genomes]
rs795571	0.82[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	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12750340	KIAA1009	trans	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75468800-75470000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:75469000-75469400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:75469000-75469800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr1:75469000-75470000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:75469000-75470000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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