Variant report

Variant	rs455942
Chromosome Location	chr21:41177122-41177123
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:41176286..41179119-chr21:41223503..41225778,2	MCF-7	breast:
2	chr21:41169026..41172002-chr21:41176222..41177881,2	MCF-7	breast:
3	chr21:41159294..41163667-chr21:41173030..41178061,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183067	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1018350	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1018351	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11088495	0.82[ASN][1000 genomes]
rs1118102	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1118103	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1571713	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2142194	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2178882	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837209	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837211	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837212	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837216	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837220	0.83[ASN][1000 genomes]
rs2837224	0.83[ASN][1000 genomes]
rs365976	0.86[ASN][1000 genomes]
rs455359	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs455593	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs455830	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs456522	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs456713	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs456818	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs457488	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs458406	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs458824	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs458922	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs460549	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs460648	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs461558	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs462163	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs462555	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs463903	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs464201	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs464351	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs464574	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs464623	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs465258	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs465679	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs466303	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs466946	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs467044	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4816657	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4816658	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818091	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818093	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4818096	0.82[ASN][1000 genomes]
rs94967	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9983185	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv834099	chr21:41076873-41206030	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41161400-41180000	Weak transcription	Pancreas	Pancrea
2	chr21:41164200-41185600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:41174000-41178000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr21:41174800-41177200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:41176000-41178200	Enhancers	Placenta	Placenta
6	chr21:41176800-41184200	Weak transcription	Fetal Brain Male	brain
7	chr21:41177000-41180800	Weak transcription	Fetal Heart	heart

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