Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11711331	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11712243	0.90[EUR][1000 genomes]
rs11915042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13074632	0.87[EUR][1000 genomes]
rs13083476	0.90[EUR][1000 genomes]
rs1464790	0.81[EUR][1000 genomes]
rs1464791	0.83[EUR][1000 genomes]
rs17019299	0.80[EUR][1000 genomes]
rs2290081	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2873054	0.85[EUR][1000 genomes]
rs3755713	0.85[EUR][1000 genomes]
rs3772882	0.83[EUR][1000 genomes]
rs3772883	0.83[EUR][1000 genomes]
rs3772884	0.85[EUR][1000 genomes]
rs3860595	0.83[EUR][1000 genomes]
rs4411908	0.83[EUR][1000 genomes]
rs6548773	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6765917	0.85[EUR][1000 genomes]
rs7631052	0.80[EUR][1000 genomes]
rs7641973	0.83[EUR][1000 genomes]
rs9817181	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9818006	0.85[EUR][1000 genomes]
rs9826270	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9842330	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13088000	GBE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81837200-81839600	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr3:81837200-81839800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:81837400-81839600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:81837800-81839600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:81837800-81840200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:81838400-81839800	Enhancers	Fetal Lung	lung
7	chr3:81838600-81839600	Enhancers	GM12878-XiMat	blood
8	chr3:81839000-81839600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:81839000-81839600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:81839000-81839600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:81839000-81839600	Enhancers	Primary hematopoietic stem cells	blood
12	chr3:81839400-81839600	Flanking Active TSS	Fetal Heart	heart
13	chr3:81839400-81840000	Enhancers	Psoas Muscle	Psoas

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