Variant report

Variant	rs17473243
Chromosome Location	chr11:17266259-17266260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1236311	0.81[EUR][1000 genomes]
rs12577388	1.00[CEU][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs12577418	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap]
rs12577525	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577815	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472942	0.80[EUR][1000 genomes]
rs17560341	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs17561348	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs17641418	0.86[EUR][1000 genomes]
rs1987694	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs214070	0.90[CHB][hapmap]
rs214086	0.81[ASN][1000 genomes]
rs214090	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs214091	0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214098	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214903	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs214932	0.87[EUR][1000 genomes]
rs214933	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs214934	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs214938	0.87[EUR][1000 genomes]
rs34724588	0.85[EUR][1000 genomes]
rs34941502	0.84[EUR][1000 genomes]
rs3950680	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs476890	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs492263	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs522619	0.89[EUR][1000 genomes]
rs569780	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs586785	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60173525	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615424	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61881877	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61881881	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs644419	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs664382	0.87[EUR][1000 genomes]
rs665311	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs679201	0.89[EUR][1000 genomes]
rs7108067	0.89[EUR][1000 genomes]
rs7478986	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17473243	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17265000-17267200	Enhancers	Dnd41	blood
2	chr11:17265200-17266600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:17265200-17266600	Enhancers	GM12878-XiMat	blood
4	chr11:17265200-17267000	Enhancers	Primary hematopoietic stem cells	blood
5	chr11:17265200-17267000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:17265600-17266600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr11:17265600-17267000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:17265600-17267200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:17265800-17266800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr11:17266000-17267000	Enhancers	Primary T cells from cord blood	blood

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