Variant report

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40806101..40808384-chr21:40808781..40811676,2	K562	blood:
2	chr21:40795569..40798127-chr21:40805506..40807919,2	MCF-7	breast:
3	chr21:40806088..40810379-chr21:40811300..40813801,4	MCF-7	breast:
4	chr21:40790656..40795669-chr21:40803427..40806877,6	K562	blood:
5	chr21:40719318..40723281-chr21:40801424..40807079,4	K562	blood:
6	chr21:40684431..40686424-chr21:40805077..40808809,3	MCF-7	breast:
7	chr21:40802401..40805475-chr21:40806755..40808757,4	K562	blood:
8	chr21:40792920..40797189-chr21:40804066..40808775,4	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11575944	0.81[ASN][1000 genomes]
rs12483547	0.86[ASN][1000 genomes]
rs13050837	0.86[ASN][1000 genomes]
rs13051054	0.86[ASN][1000 genomes]
rs2049823	0.82[ASN][1000 genomes]
rs2837010	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2837011	0.94[CEU][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2837012	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2837013	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2837016	0.83[ASN][1000 genomes]
rs2837027	0.89[CEU][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2837028	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2837038	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4816626	0.89[ASN][1000 genomes]
rs4816628	0.80[ASN][1000 genomes]
rs7276842	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7277602	0.80[ASN][1000 genomes]
rs9979289	0.81[ASN][1000 genomes]
rs9979353	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9983100	0.89[ASN][1000 genomes]
rs9983180	0.86[ASN][1000 genomes]
rs9983404	0.85[ASN][1000 genomes]
rs9983716	0.86[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
rs2837033	LINC00114	cis	Artery Tibial	GTEx

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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