Variant report

Variant	rs17061202
Chromosome Location	chr6:132683762-132683763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10484483	0.93[CHB][hapmap]
rs10499185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs11966044	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11968833	0.87[CHB][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap]
rs13190939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13196312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1338387	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs1338388	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17637818	0.93[CHB][hapmap];0.85[TSI][hapmap]
rs17792959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1981187	0.82[EUR][1000 genomes]
rs28385615	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34390977	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34608104	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34807768	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35876357	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36085961	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4897577	0.82[EUR][1000 genomes]
rs6914923	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72994821	0.93[ASN][1000 genomes]
rs7740690	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7761051	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7763146	0.91[CEU][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs7766544	0.88[EUR][1000 genomes]
rs9375876	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9375877	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.84[LWK][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs9385602	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs9493294	0.91[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs9493297	0.82[CHB][hapmap]

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	nsv886674	chr6:132613798-132694751	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv830811	chr6:132623160-132787539	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv886675	chr6:132683762-132730947	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17061202	POU4F1	trans	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132676400-132686400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:132677200-132688600	Weak transcription	Osteobl	bone
3	chr6:132677400-132701200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:132678600-132690400	Weak transcription	NH-A	brain
5	chr6:132679000-132690000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:132679200-132683800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:132682000-132692200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:132682200-132683800	Weak transcription	Fetal Kidney	kidney
9	chr6:132682200-132686400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:132682200-132705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:132682400-132686000	Weak transcription	Fetal Stomach	stomach
12	chr6:132682400-132686600	Weak transcription	HSMM	muscle
13	chr6:132682600-132685800	Weak transcription	Primary B cells from cord blood	blood
14	chr6:132682800-132685600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:132683400-132685000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:132683600-132684800	Enhancers	NHDF-Ad	bronchial
17	chr6:132683600-132688000	Enhancers	Fetal Lung	lung

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