Variant report

Variant	rs12574749
Chromosome Location	chr11:32405355-32405356
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:32404302..32406128-chr11:32451731..32454627,2	K562	blood:
2	chr11:32404951..32407417-chr11:32425366..32427411,2	K562	blood:
3	chr11:32404442..32407230-chr11:32442115..32444001,2	K562	blood:
4	chr11:32404607..32407766-chr11:32605080..32608022,4	K562	blood:
5	chr11:32405231..32409162-chr11:32605421..32608022,3	K562	blood:

Variant related genes	Relation type
ENSG00000149100	Chromatin interaction
ENSG00000184937	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10767933	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10767934	0.92[ASN][1000 genomes]
rs10767935	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10835893	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10835894	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835896	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835897	0.95[ASN][1000 genomes]
rs10835900	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10835901	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10835902	0.88[ASN][1000 genomes]
rs10835903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10835904	0.84[CHB][hapmap]
rs10835905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10835906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10835907	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11031754	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11031755	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs11031757	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031760	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11031761	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031762	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031763	0.93[ASN][1000 genomes]
rs11031767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11031769	0.89[ASN][1000 genomes]
rs11031770	0.87[ASN][1000 genomes]
rs12365223	0.83[ASN][1000 genomes]
rs12365511	0.95[ASN][1000 genomes]
rs1569776	0.90[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs16923242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1799937	0.84[CHB][hapmap];0.85[CHD][hapmap];0.87[MEX][hapmap];0.81[ASN][1000 genomes]
rs2234587	0.84[CHB][hapmap]
rs2295082	0.84[CHB][hapmap]
rs3818055	0.84[CHB][hapmap]
rs3847589	0.90[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs3858440	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3858441	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3858442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3858443	0.87[ASN][1000 genomes]
rs3901671	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[ASN][1000 genomes]
rs3932463	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4140414	0.92[ASN][1000 genomes]
rs5030201	0.84[CHB][hapmap]
rs5030207	0.84[CHB][hapmap]
rs5030218	0.83[CHB][hapmap]
rs5030234	0.90[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs5030241	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5030268	0.85[ASN][1000 genomes]
rs5030270	0.85[ASN][1000 genomes]
rs5030277	0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs5030280	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs5030281	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs5030310	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs5030317	0.89[CEU][hapmap];0.84[CHB][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5030320	0.95[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56911719	0.82[ASN][1000 genomes]
rs58222320	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58736369	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59666608	0.83[ASN][1000 genomes]
rs61889206	0.82[AMR][1000 genomes]
rs6484573	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6484574	0.81[ASN][1000 genomes]
rs6484575	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6484576	0.94[CEU][hapmap];0.83[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6484577	0.83[CHB][hapmap]
rs7105549	0.81[ASN][1000 genomes]
rs7108339	0.82[JPT][hapmap]
rs7116169	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125543	0.95[ASN][1000 genomes]
rs7125816	0.95[ASN][1000 genomes]
rs7925851	0.89[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7926521	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926620	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938016	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[ASN][1000 genomes]
rs7939496	0.89[CEU][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7943119	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7946388	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951745	0.89[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12574749	WT1AS	cis	cerebellum	SCAN
rs12574749	PRR5L	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32396400-32407800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:32403200-32411800	Weak transcription	Spleen	Spleen
3	chr11:32403800-32405800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:32404000-32411800	Weak transcription	Right Ventricle	heart
5	chr11:32404400-32406000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:32404400-32407800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:32405000-32406000	Weak transcription	Ovary	ovary
8	chr11:32405000-32406000	Weak transcription	K562	blood
9	chr11:32405000-32406200	Weak transcription	Fetal Heart	heart
10	chr11:32405000-32409400	Strong transcription	Fetal Kidney	kidney

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