Variant report

Variant	rs60173525
Chromosome Location	chr11:17259967-17259968
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	chr11:17238056..17240462-chr11:17259257..17260894,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1236311	0.81[EUR][1000 genomes]
rs12577388	0.80[EUR][1000 genomes]
rs12577525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577815	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472942	0.80[EUR][1000 genomes]
rs17473243	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560341	0.80[EUR][1000 genomes]
rs17561348	0.86[EUR][1000 genomes]
rs17641418	0.86[EUR][1000 genomes]
rs1987694	0.80[EUR][1000 genomes]
rs214086	0.81[ASN][1000 genomes]
rs214090	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs214091	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214098	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214903	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs214932	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs214933	0.87[EUR][1000 genomes]
rs214934	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs214938	0.87[EUR][1000 genomes]
rs34724588	0.85[EUR][1000 genomes]
rs34941502	0.84[EUR][1000 genomes]
rs3950680	0.86[EUR][1000 genomes]
rs476890	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs492263	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs522619	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs569780	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs586785	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs615424	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61881877	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61881881	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs644419	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs664382	0.87[EUR][1000 genomes]
rs665311	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs679201	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7108067	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

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
rs60173525	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17259600-17260200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:17259800-17260400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:17259800-17260400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:17259800-17260400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr11:17259800-17260400	Enhancers	NHEK	skin
6	chr11:17259800-17260800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:17259800-17261800	Enhancers	Placenta	Placenta

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