Variant report

Variant	rs6774290
Chromosome Location	chr3:69393419-69393420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11128125	0.90[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs1564758	0.81[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1976064	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2003264	0.93[ASN][1000 genomes]
rs2005546	0.90[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs2008239	0.90[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs34397489	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6549200	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.90[ASN][1000 genomes]
rs6549204	0.99[ASN][1000 genomes]
rs6549213	0.83[CHD][hapmap]
rs6763080	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781841	0.99[ASN][1000 genomes]
rs6802833	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6808107	0.94[ASN][1000 genomes]
rs7610748	0.92[ASN][1000 genomes]
rs7615137	0.87[ASN][1000 genomes]
rs7640281	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9820308	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9820322	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9844501	0.85[CEU][hapmap]
rs9867072	0.98[ASN][1000 genomes]
rs9869925	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9872564	0.90[CHB][hapmap]
rs9876410	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9882259	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[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	nsv876935	chr3:69307942-69401248	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv1800315	chr3:69374729-69414587	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6774290	EBLN2	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69372200-69403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:69378400-69400600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:69386000-69400200	Weak transcription	NHEK	skin
4	chr3:69387800-69393600	Enhancers	Brain Hippocampus Middle	brain
5	chr3:69389000-69400800	Weak transcription	Aorta	Aorta
6	chr3:69389400-69400600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:69389800-69400200	Weak transcription	HUVEC	blood vessel
8	chr3:69391200-69394000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:69391200-69394600	Weak transcription	Thymus	Thymus
10	chr3:69391600-69394600	Weak transcription	Fetal Lung	lung
11	chr3:69393000-69393600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:69393000-69393800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:69393200-69393600	Enhancers	Brain Anterior Caudate	brain
14	chr3:69393200-69394000	Strong transcription	HSMM	muscle
15	chr3:69393400-69393600	Enhancers	Brain Cingulate Gyrus	brain
16	chr3:69393400-69395600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:69393400-69402600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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