Variant report

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1122694	0.84[ASN][1000 genomes]
rs12427824	0.88[ASN][1000 genomes]
rs3119823	0.82[ASN][1000 genomes]
rs3119824	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs475607	0.82[CEU][hapmap]
rs4769796	1.00[ASN][1000 genomes]
rs4769797	1.00[ASN][1000 genomes]
rs4769798	0.83[ASN][1000 genomes]
rs485057	0.86[CEU][hapmap]
rs486677	0.81[EUR][1000 genomes]
rs503693	0.91[CEU][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap]
rs529547	0.89[ASN][1000 genomes]
rs531084	0.81[EUR][1000 genomes]
rs562459	0.82[CEU][hapmap]
rs571307	0.82[CEU][hapmap]
rs572055	0.81[CEU][hapmap]
rs573132	0.82[CEU][hapmap]
rs588372	0.82[CEU][hapmap]
rs605478	0.81[CEU][hapmap]
rs632258	0.82[CEU][hapmap]
rs633496	0.82[CEU][hapmap]
rs638330	0.98[ASN][1000 genomes]
rs646983	0.82[CEU][hapmap]
rs647794	0.81[CEU][hapmap]
rs669105	0.81[EUR][1000 genomes]
rs679603	0.93[EUR][1000 genomes]
rs73159363	0.89[ASN][1000 genomes]
rs7324833	0.88[ASN][1000 genomes]
rs7333713	1.00[ASN][1000 genomes]
rs7996122	0.83[CEU][hapmap]
rs865324	0.81[CEU][hapmap]
rs866019	0.81[EUR][1000 genomes]
rs912785	0.82[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs647790	ATP5EP2	cis	parietal	SCAN
rs647790	C13orf33	cis	cerebellum	SCAN
rs647790	FAM123A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30562600-30564400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:30563000-30565200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:30563600-30565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:30564200-30565000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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