Variant report

Variant	rs12083520
Chromosome Location	chr1:86693196-86693197
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	chr1:86687667..86689608-chr1:86691376..86693441,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11161776	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11161777	0.83[AFR][1000 genomes]
rs11161778	0.81[EUR][1000 genomes]
rs11161779	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11161780	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11161781	0.85[EUR][1000 genomes]
rs12066977	0.83[AFR][1000 genomes]
rs12081535	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12093863	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12562271	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs56046090	0.83[EUR][1000 genomes]
rs6576802	1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs6576818	0.81[EUR][1000 genomes]
rs6576821	0.81[EUR][1000 genomes]
rs6576823	0.85[EUR][1000 genomes]
rs6656914	1.00[EUR][1000 genomes]
rs6657899	1.00[EUR][1000 genomes]
rs6658327	0.81[EUR][1000 genomes]
rs6665027	0.84[ASN][1000 genomes]
rs6669015	0.81[EUR][1000 genomes]
rs7513879	0.83[AFR][1000 genomes]
rs7521740	0.81[EUR][1000 genomes]
rs7540026	0.81[EUR][1000 genomes]
rs7540048	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7546401	0.83[EUR][1000 genomes]
rs7547133	1.00[CEU][hapmap]
rs7553562	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1009092	chr1:86532988-86724805	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv535024	chr1:86532988-86724805	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830481	chr1:86550274-86737290	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12083520	ODF2L	cis	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86690200-86693400	Enhancers	HSMMtube	muscle
2	chr1:86690600-86693400	Weak transcription	Fetal Brain Male	brain
3	chr1:86690800-86693200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:86691200-86694800	Weak transcription	Fetal Brain Female	brain
5	chr1:86692200-86693200	Enhancers	Brain Germinal Matrix	brain
6	chr1:86692600-86693400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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