Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10056190	1.00[JPT][hapmap]
rs10062770	1.00[JPT][hapmap]
rs10072502	0.89[ASN][1000 genomes]
rs10942920	1.00[JPT][hapmap]
rs12654082	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1500138	0.85[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs16877666	0.96[ASN][1000 genomes]
rs1862136	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2173676	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405138	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4521455	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6453514	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs6859753	0.85[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6871763	0.88[ASN][1000 genomes]
rs7706514	0.96[ASN][1000 genomes]
rs7710968	0.96[ASN][1000 genomes]
rs7718110	1.00[JPT][hapmap]
rs7720696	0.85[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs7722090	1.00[JPT][hapmap]
rs7735071	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv522634	chr5:79577760-79580818	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv964902	chr5:79578051-79585364	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv518863	chr5:79578797-79580818	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2216548	CLDN17	trans	cerebellum	SCAN
rs2216548	TMEM167A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79567800-79580400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:79578200-79580600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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