Variant report

Variant	rs1111810
Chromosome Location	chr6:145261448-145261449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:145257627..145260231-chr6:145260942..145263253,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13194942	0.84[ASN][1000 genomes]
rs13216871	0.91[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];0.85[ASN][1000 genomes]
rs1416297	0.84[ASN][1000 genomes]
rs1832481	0.96[ASN][1000 genomes]
rs2153110	0.81[ASN][1000 genomes]
rs2185145	0.84[ASN][1000 genomes]
rs4896766	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4896767	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6570661	0.81[ASN][1000 genomes]
rs6570662	0.85[ASN][1000 genomes]
rs6570663	0.84[ASN][1000 genomes]
rs6917204	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7753021	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7773947	0.84[ASN][1000 genomes]
rs9283117	0.81[ASN][1000 genomes]
rs9285506	0.85[ASN][1000 genomes]
rs9322008	0.85[ASN][1000 genomes]
rs9322009	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9373436	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9376877	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9376878	0.84[ASN][1000 genomes]
rs9376879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9386093	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390264	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9390266	0.85[ASN][1000 genomes]
rs9403636	0.85[ASN][1000 genomes]
rs9403640	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9403644	0.90[ASN][1000 genomes]
rs9497128	0.81[ASN][1000 genomes]
rs9497135	0.82[ASN][1000 genomes]
rs9497163	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv1850377	chr6:145199259-145319640	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv981368	chr6:145255217-145265647	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1111810	PLAGL1	cis	cerebellum	SCAN
rs1111810	VTA1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145260200-145261600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:145260600-145261600	Enhancers	NHDF-Ad	bronchial
3	chr6:145261000-145261600	Enhancers	Osteobl	bone
4	chr6:145261000-145262000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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