Variant report

Variant	rs1332011
Chromosome Location	chr6:38908311-38908312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38902804..38905532-chr6:38908040..38910496,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12208827	0.83[CEU][hapmap]
rs13214237	0.87[CEU][hapmap]
rs13214471	0.89[CEU][hapmap];0.89[TSI][hapmap]
rs1412264	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[TSI][hapmap]
rs1412270	0.89[CEU][hapmap];0.95[TSI][hapmap]
rs1537232	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[TSI][hapmap]
rs16891333	1.00[ASW][hapmap];0.89[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.95[TSI][hapmap]
rs16891370	0.89[CEU][hapmap];0.83[TSI][hapmap]
rs2076514	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2273094	0.84[CEU][hapmap]
rs4573077	0.84[CEU][hapmap]
rs7754034	0.88[CEU][hapmap]
rs9357293	0.87[EUR][1000 genomes]
rs9366989	0.89[CEU][hapmap]
rs9369095	0.87[EUR][1000 genomes]
rs9369096	0.88[CEU][hapmap]
rs9369097	0.88[CEU][hapmap]
rs9369098	0.88[CEU][hapmap]
rs9394556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9394568	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv885821	chr6:38843970-39039503	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv602962	chr6:38907202-38940282	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1332011	FANCE	cis	parietal	SCAN
rs1332011	MDGA1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38906800-38909800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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