Variant report

Variant	rs7728872
Chromosome Location	chr5:97321842-97321843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11953184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7724431	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7729564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7733525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020125	chr5:96937248-97350644	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv830418	chr5:97139371-97326878	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3372859	chr5:97190949-97325577	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1016231	chr5:97206242-97420435	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1021856	chr5:97258323-97414178	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv599062	chr5:97258619-97430527	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2830155	chr5:97278902-97425123	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv882404	chr5:97281641-97638743	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv4927	chr5:97312116-97357085	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv969926	chr5:97319859-97326887	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7728872	PDGFA	trans	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97321400-97322400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:97321400-97322400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:97321400-97322600	Enhancers	NHDF-Ad	bronchial
4	chr5:97321800-97322000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:97321800-97322200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:97321800-97322200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:97321800-97322200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:97321800-97322200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:97321800-97322200	Enhancers	HSMM	muscle
10	chr5:97321800-97322200	Flanking Active TSS	NH-A	brain
11	chr5:97321800-97322200	Flanking Active TSS	Osteobl	bone

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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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