Variant report

Variant	rs12270749
Chromosome Location	chr11:32469259-32469260
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32465131..32467084-chr11:32469130..32471983,4	K562	blood:
2	chr11:32468457..32470421-chr11:32472103..32475103,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10742277	0.82[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs10742278	0.80[AFR][1000 genomes]
rs10767936	0.85[AFR][1000 genomes]
rs10767937	0.85[AFR][1000 genomes]
rs10767938	0.85[AFR][1000 genomes]
rs10835911	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10835916	0.92[ASN][1000 genomes]
rs10835917	0.81[CHD][hapmap];0.89[JPT][hapmap]
rs11031791	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11031792	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11031793	0.99[ASN][1000 genomes]
rs11031796	0.83[ASN][1000 genomes]
rs12292135	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2073187	0.85[AFR][1000 genomes]
rs2301250	0.92[CHD][hapmap];0.91[GIH][hapmap]
rs3809060	0.92[CHD][hapmap];0.91[GIH][hapmap]
rs3809061	0.92[CHD][hapmap];0.91[GIH][hapmap]
rs3858453	0.83[AFR][1000 genomes]
rs3858454	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3858455	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3858456	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3930317	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3930513	0.92[CHD][hapmap];0.91[GIH][hapmap]
rs4275604	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4304748	0.85[AFR][1000 genomes]
rs4304749	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4980793	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7103000	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7110547	0.92[CHD][hapmap];0.88[GIH][hapmap]
rs7115829	0.85[AFR][1000 genomes]
rs7126322	0.88[ASN][1000 genomes]
rs7395210	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7948813	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs975665	0.81[AFR][1000 genomes]

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	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
2	esv2753303	chr11:32447324-32494924	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12270749	PRR5L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32468600-32469400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:32468800-32469600	Enhancers	Dnd41	blood
3	chr11:32468800-32471400	Enhancers	K562	blood
4	chr11:32469000-32487800	Weak transcription	Ovary	ovary
5	chr11:32469200-32470000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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