Variant report

Variant	rs8129943
Chromosome Location	chr21:40807057-40807058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40806101..40808384-chr21:40808781..40811676,2	K562	blood:
2	chr21:40806813..40809216-chr21:40821786..40823803,2	K562	blood:
3	chr21:40795569..40798127-chr21:40805506..40807919,2	MCF-7	breast:
4	chr21:40806088..40810379-chr21:40811300..40813801,4	MCF-7	breast:
5	chr21:40719318..40723281-chr21:40801424..40807079,4	K562	blood:
6	chr21:40684431..40686424-chr21:40805077..40808809,3	MCF-7	breast:
7	chr21:40802652..40805475-chr21:40806866..40810296,4	K562	blood:
8	chr21:40802401..40805475-chr21:40806755..40808757,4	K562	blood:
9	chr21:40792920..40797189-chr21:40804066..40808775,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185437	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000205581	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11088476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1722873	0.81[EUR][1000 genomes]
rs1735136	0.81[EUR][1000 genomes]
rs1735137	0.88[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs2063999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2277788	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2410157	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2836995	0.84[CHB][hapmap]
rs2836996	0.84[CHB][hapmap]
rs2836997	0.84[CHB][hapmap]
rs2837003	0.92[CHB][hapmap]
rs2837004	0.92[CHB][hapmap]
rs3787925	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3827209	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4358205	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4389391	0.81[EUR][1000 genomes]
rs4608607	0.81[EUR][1000 genomes]
rs4816624	0.84[CHB][hapmap]
rs4818037	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517551	0.81[EUR][1000 genomes]
rs6517552	0.88[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs7277386	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs760284	0.81[EUR][1000 genomes]
rs8127431	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8130752	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9680225	0.90[EUR][1000 genomes]
rs975479	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs975934	1.00[CEU][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs9979083	0.82[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8129943	WRB	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
2	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
3	chr21:40781200-40811000	Weak transcription	Aorta	Aorta
4	chr21:40781200-40813000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr21:40781200-40813200	Weak transcription	HSMMtube	muscle
6	chr21:40802000-40813800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:40802600-40816200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:40802600-40816600	Weak transcription	Right Atrium	heart
9	chr21:40802800-40814000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:40806200-40807200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:40806400-40807400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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