Variant report

Variant	rs73358130
Chromosome Location	chr21:40948303-40948304
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11909032	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909036	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73358117	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73358123	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73358139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73358140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73358142	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73358145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73358146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73358147	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73358196	1.00[AMR][1000 genomes]
rs73360104	1.00[AMR][1000 genomes]
rs73360113	1.00[AMR][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:9 , 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	chr21:40944400-40948400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:40947400-40949000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr21:40947600-40949200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr21:40948000-40948600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:40948200-40948800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:40948200-40948800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr21:40948200-40949400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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