Variant report

Variant	rs11709732
Chromosome Location	chr3:25391348-25391349
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:25385596..25387245-chr3:25390667..25392200,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11707139	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11709169	0.96[ASN][1000 genomes]
rs11709623	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11714481	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11716065	0.97[EUR][1000 genomes]
rs11717848	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718836	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720675	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11721271	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1436251	0.83[ASN][1000 genomes]
rs17016187	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs17016260	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17588596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1905465	0.85[ASN][1000 genomes]
rs2164476	1.00[JPT][hapmap]
rs57697446	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6550961	0.85[ASN][1000 genomes]
rs6550962	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6550963	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6550966	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771956	0.96[ASN][1000 genomes]
rs6774199	0.96[ASN][1000 genomes]
rs6799363	0.96[ASN][1000 genomes]
rs7615094	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615609	0.96[ASN][1000 genomes]
rs7623030	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7649070	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9822411	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs9877461	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]

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	nsv949035	chr3:25194301-26084890	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking 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	68 gene(s)	inside rSNPs	diseases
2	nsv834645	chr3:25363723-25555107	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11709732	AZI2	cis	cerebellum	SCAN
rs11709732	UBE2D3	trans	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:25386800-25396200	Weak transcription	Fetal Stomach	stomach
2	chr3:25388200-25391400	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:25388400-25391600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:25388600-25395200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:25389400-25391600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:25390400-25392600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr3:25390400-25393200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:25390800-25392800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:25391200-25393400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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