Variant report

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1022320	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs1022321	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs10773036	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap]
rs10846554	0.81[ASN][1000 genomes]
rs10846556	0.82[EUR][1000 genomes]
rs10846557	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10846558	0.91[ASN][1000 genomes]
rs10846559	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs11057352	0.85[ASN][1000 genomes]
rs11057357	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11057358	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs11057359	0.88[ASN][1000 genomes]
rs1114628	0.80[CEU][hapmap]
rs11832329	0.81[EUR][1000 genomes]
rs11834698	0.81[ASN][1000 genomes]
rs11835233	0.81[EUR][1000 genomes]
rs11835252	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs12099921	0.85[ASN][1000 genomes]
rs12302651	0.87[CEU][hapmap]
rs1568027	0.83[EUR][1000 genomes]
rs1568028	0.88[ASN][1000 genomes]
rs1568030	0.88[CEU][hapmap]
rs34535130	0.82[EUR][1000 genomes]
rs36085880	0.84[ASN][1000 genomes]
rs4930731	0.82[TSI][hapmap]
rs56759847	0.93[ASN][1000 genomes]
rs59341883	0.93[ASN][1000 genomes]
rs61143657	0.90[ASN][1000 genomes]
rs7131750	0.84[ASN][1000 genomes]
rs7136121	0.83[EUR][1000 genomes]
rs7137299	0.83[EUR][1000 genomes]
rs7962448	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7965847	1.00[CHB][hapmap]
rs7978454	1.00[CHB][hapmap]
rs9888323	1.00[CHB][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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11057353	DDX55	cis	cerebellum	SCAN
rs11057353	TCTN2	cis	cerebellum	SCAN
rs11057353	TCTN2	cis	parietal	SCAN
rs11057353	ATP6V0A2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124255600-124270800	Weak transcription	Brain Anterior Caudate	brain
2	chr12:124265200-124266000	Enhancers	Fetal Brain Male	brain
3	chr12:124265600-124265800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:124265600-124265800	Enhancers	Fetal Brain Female	brain

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