Variant report

Variant	rs73374272
Chromosome Location	chr21:44569517-44569518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28718858	1.00[EUR][1000 genomes]
rs59325549	1.00[EUR][1000 genomes]
rs73376213	1.00[EUR][1000 genomes]
rs73376237	1.00[EUR][1000 genomes]
rs73376238	1.00[EUR][1000 genomes]
rs73376241	1.00[EUR][1000 genomes]
rs73906468	1.00[EUR][1000 genomes]
rs73906487	1.00[EUR][1000 genomes]
rs73906488	1.00[EUR][1000 genomes]
rs73906489	1.00[EUR][1000 genomes]
rs73906491	1.00[EUR][1000 genomes]
rs73906494	1.00[EUR][1000 genomes]
rs73906499	1.00[EUR][1000 genomes]
rs73909413	1.00[EUR][1000 genomes]
rs9976127	1.00[EUR][1000 genomes]
rs9978735	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv1827985	chr21:44447198-44596778	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv913828	chr21:44471692-44598827	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
6	nsv1060276	chr21:44550394-44628579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44551800-44593200	Weak transcription	Right Atrium	heart
2	chr21:44567200-44578600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:44568000-44570000	Enhancers	Fetal Muscle Leg	muscle
4	chr21:44568000-44570200	Enhancers	Fetal Thymus	thymus
5	chr21:44568000-44570800	Enhancers	Placenta	Placenta
6	chr21:44568200-44569600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:44568200-44569800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:44568600-44569600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:44568600-44569600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:44568600-44570600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr21:44568600-44571400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:44568600-44573800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:44568600-44574000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr21:44568600-44574000	Weak transcription	HepG2	liver
15	chr21:44569000-44569800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr21:44569200-44569800	Enhancers	Pancreas	Pancrea
17	chr21:44569400-44569600	ZNF genes & repeats	Thymus	Thymus
18	chr21:44569400-44576200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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