Variant report

Variant	rs73097546
Chromosome Location	chr5:44911642-44911643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10064562	1.00[AMR][1000 genomes]
rs10473379	1.00[AMR][1000 genomes]
rs11951805	1.00[AMR][1000 genomes]
rs13361880	1.00[AMR][1000 genomes]
rs13362360	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097567	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9292911	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv881564	chr5:44783255-44914579	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv880397	chr5:44800665-44939293	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv880483	chr5:44827292-45038026	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv462129	chr5:44876288-44916789	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv597935	chr5:44876288-44916789	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv462130	chr5:44879577-44920711	Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv597936	chr5:44879577-44920711	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44911000-44912200	Enhancers	Fetal Heart	heart
2	chr5:44911200-44911800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:44911200-44911800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:44911200-44912200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:44911400-44911800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:44911400-44912200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:44911400-44912200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:44911600-44912200	Enhancers	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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