Variant report

Variant	rs542531
Chromosome Location	chr21:40944237-40944238
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40938920..40940719-chr21:40942034..40944243,2	MCF-7	breast:
2	chr21:40943694..40945815-chr21:40949884..40952156,3	MCF-7	breast:
3	chr21:40938866..40941607-chr21:40942165..40944706,2	K562	blood:
4	chr21:40913607..40915930-chr21:40942342..40944958,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1734930	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837074	0.90[ASN][1000 genomes]
rs2837083	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2989335	0.90[ASN][1000 genomes]
rs492140	1.00[ASN][1000 genomes]
rs503729	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506387	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516865	1.00[ASN][1000 genomes]
rs523372	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526526	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527343	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528499	1.00[ASN][1000 genomes]
rs529409	1.00[ASN][1000 genomes]
rs538333	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551439	1.00[ASN][1000 genomes]
rs551624	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551680	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551830	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554401	1.00[ASN][1000 genomes]
rs555963	1.00[ASN][1000 genomes]
rs561166	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562285	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563230	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563259	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564126	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567837	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568840	0.90[ASN][1000 genomes]
rs571227	0.90[ASN][1000 genomes]
rs572926	0.83[AFR][1000 genomes]
rs577473	0.86[AFR][1000 genomes]
rs579841	0.90[ASN][1000 genomes]
rs585092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586795	0.89[AFR][1000 genomes]
rs59155174	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596320	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs599045	0.89[AFR][1000 genomes]
rs599377	0.88[AFR][1000 genomes]
rs602107	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611039	1.00[ASN][1000 genomes]
rs611958	1.00[ASN][1000 genomes]
rs613758	1.00[ASN][1000 genomes]
rs617259	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626856	0.81[ASN][1000 genomes]
rs628995	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629432	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630270	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631454	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636599	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646823	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650633	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651607	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657833	0.90[ASN][1000 genomes]
rs658066	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665778	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv433457	chr21:40900348-40964553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	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
8	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
9	esv17842	chr21:40918970-40965975	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40940600-40948400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:40940800-40948400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:40941600-40945200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:40941600-40947600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr21:40944200-40944400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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