Variant report

Variant	rs9982529
Chromosome Location	chr21:40840878-40840879
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1722873	0.99[ASN][1000 genomes]
rs1735136	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1735137	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2410157	0.85[ASN][1000 genomes]
rs3787925	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs3827209	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs4358205	0.82[CHB][hapmap]
rs4389391	1.00[ASN][1000 genomes]
rs4608607	1.00[ASN][1000 genomes]
rs4818037	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs6517551	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6517552	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7277386	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs760284	1.00[ASN][1000 genomes]
rs8127431	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs8130752	0.84[ASN][1000 genomes]
rs975479	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs975934	0.82[ASN][1000 genomes]
rs9975004	0.82[ASN][1000 genomes]
rs9979083	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs9981674	0.86[ASN][1000 genomes]
rs9983428	0.81[CHB][hapmap]

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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9982529	WRB	cis	Thyroid	GTEx
rs9982529	WRB	cis	brain	BrainEAC
rs9982529	WRB	cis	occipital cortex	BrainEAC
rs9982529	WRB	cis	intralobular white matter	BrainEAC
rs9982529	WRB	cis	multi-tissue	Pritchard

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40824000-40852400	Weak transcription	Pancreas	Pancrea
2	chr21:40825000-40847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr21:40826600-40849800	Weak transcription	HSMMtube	muscle
4	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:40828600-40847400	Weak transcription	Brain Substantia Nigra	brain
6	chr21:40828800-40847600	Weak transcription	Brain Angular Gyrus	brain
7	chr21:40828800-40847600	Weak transcription	Brain Anterior Caudate	brain
8	chr21:40829800-40856200	Weak transcription	Aorta	Aorta
9	chr21:40830200-40849800	Weak transcription	Primary T cells from cord blood	blood
10	chr21:40833000-40847200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr21:40835600-40851000	Weak transcription	Ovary	ovary
12	chr21:40835800-40847800	Weak transcription	Left Ventricle	heart
13	chr21:40836200-40851000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:40836200-40852200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr21:40836400-40851400	Weak transcription	Brain Hippocampus Middle	brain
16	chr21:40836400-40894800	Weak transcription	Right Ventricle	heart
17	chr21:40838800-40849800	Weak transcription	Liver	Liver
18	chr21:40840200-40844000	Weak transcription	Fetal Heart	heart
19	chr21:40840600-40844000	Weak transcription	Psoas Muscle	Psoas
20	chr21:40840600-40847600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr21:40840600-40847800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr21:40840800-40844200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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