Variant report

Variant	rs13196312
Chromosome Location	chr6:132681877-132681878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
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];1.00[JPT][hapmap]
rs11966044	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11968833	0.87[CHB][hapmap];0.88[GIH][hapmap];0.84[TSI][hapmap]
rs13190939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1338387	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs1338388	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17061202	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]
rs17637818	0.93[CHB][hapmap];0.84[TSI][hapmap]
rs17792959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1981187	0.82[EUR][1000 genomes]
rs28385615	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34390977	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34608104	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34807768	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35876357	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36085961	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4897577	0.82[EUR][1000 genomes]
rs6914923	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72994821	0.95[ASN][1000 genomes]
rs7740690	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7761051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7763146	0.92[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	1.00[CEU][hapmap];0.95[GIH][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs9385602	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs9493294	0.92[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs9493297	0.82[CHB][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13196312	POU4F1	trans	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132673800-132683000	Weak transcription	Esophagus	oesophagus
2	chr6:132676400-132686400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:132676600-132682000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:132677200-132688600	Weak transcription	Osteobl	bone
5	chr6:132677400-132701200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:132678600-132690400	Weak transcription	NH-A	brain
7	chr6:132679000-132690000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:132679200-132683800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:132679600-132683600	Weak transcription	NHDF-Ad	bronchial
10	chr6:132680800-132682800	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:132681000-132682000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:132681000-132682600	Enhancers	Primary B cells from cord blood	blood
13	chr6:132681200-132682200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:132681200-132682200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:132681200-132682600	Enhancers	Fetal Lung	lung
16	chr6:132681400-132682200	Enhancers	Fetal Kidney	kidney
17	chr6:132681400-132682400	Enhancers	Fetal Stomach	stomach
18	chr6:132681600-132682000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr6:132681800-132682200	Enhancers	Primary T cells from cord blood	blood
20	chr6:132681800-132682400	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:132681800-132682800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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