Variant report

Variant	rs13216871
Chromosome Location	chr6:145257393-145257394
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	chr6:144605023..144607669-chr6:145255908..145258277,2	K562	blood:

Variant related genes	Relation type
ENSG00000152818	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1111810	0.85[ASN][1000 genomes]
rs11752326	0.83[EUR][1000 genomes]
rs13194942	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13200093	0.81[EUR][1000 genomes]
rs13216473	0.83[CEU][hapmap]
rs1338704	0.83[CEU][hapmap]
rs1338705	0.83[CEU][hapmap]
rs1416297	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1572675	0.81[EUR][1000 genomes]
rs1832481	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2153110	0.88[ASN][1000 genomes]
rs2185145	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4526219	0.84[ASN][1000 genomes]
rs6570659	0.87[ASN][1000 genomes]
rs6570661	0.88[ASN][1000 genomes]
rs6570662	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570663	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6930238	0.86[ASN][1000 genomes]
rs6932709	0.83[EUR][1000 genomes]
rs7753021	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7769009	0.83[CEU][hapmap]
rs7773947	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9283117	0.88[ASN][1000 genomes]
rs9285506	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9322008	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9322009	0.84[EUR][1000 genomes]
rs9373436	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9373439	0.81[EUR][1000 genomes]
rs9376877	0.97[ASN][1000 genomes]
rs9376878	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9376879	0.85[ASN][1000 genomes]
rs9386093	0.85[ASN][1000 genomes]
rs9390264	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9390266	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9390269	0.81[EUR][1000 genomes]
rs9399523	0.81[EUR][1000 genomes]
rs9399524	0.81[EUR][1000 genomes]
rs9399525	0.81[EUR][1000 genomes]
rs9403630	0.87[ASN][1000 genomes]
rs9403636	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9403640	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9403644	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9403652	0.81[EUR][1000 genomes]
rs9497128	0.88[ASN][1000 genomes]
rs9497135	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13216871	PLAGL1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145251000-145257600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:145252600-145257400	Weak transcription	Osteobl	bone
3	chr6:145252800-145257800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:145257000-145257400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:145257200-145257400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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