Variant report

Variant	rs1338286
Chromosome Location	chr1:210360701-210360702
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12401646	0.82[ASN][1000 genomes]
rs1338298	0.84[LWK][hapmap];1.00[YRI][hapmap]
rs17318612	0.82[ASN][1000 genomes]
rs17318744	0.82[ASN][1000 genomes]
rs1806963	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2096152	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2451696	0.82[ASN][1000 genomes]
rs2451697	0.82[ASN][1000 genomes]
rs2484030	0.85[ASN][1000 genomes]
rs2484031	0.85[ASN][1000 genomes]
rs2484032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2484034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2485883	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2485884	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2485885	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2485897	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2485898	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2485902	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2487907	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2494170	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2494183	0.92[LWK][hapmap];0.84[YRI][hapmap]
rs2494184	0.84[YRI][hapmap]
rs2494191	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35256257	0.82[ASN][1000 genomes]
rs35640054	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4844954	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61820397	0.82[ASN][1000 genomes]
rs61826848	0.82[ASN][1000 genomes]
rs6540578	0.82[ASN][1000 genomes]
rs654523	1.00[YRI][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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1338286	G0S2	cis	lymphoblastoid	seeQTL
rs1338286	DIEXF	cis	lymphoblastoid	seeQTL
rs1338286	IRF6	cis	cerebellum	SCAN
rs1338286	DYRK3	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210339400-210361200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210360000-210362400	Enhancers	HSMMtube	muscle

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