Variant report

Variant	rs72648580
Chromosome Location	chr4:78309371-78309372
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78307066..78309627-chr4:78338398..78341247,3	MCF-7	breast:
2	chr4:78307688..78309988-chr4:78313564..78315382,2	K562	blood:
3	chr4:78298658..78300930-chr4:78308885..78310955,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11930470	0.80[ASN][1000 genomes]
rs11936421	0.82[ASN][1000 genomes]
rs12500776	0.96[ASN][1000 genomes]
rs12501577	0.96[ASN][1000 genomes]
rs12505837	0.91[ASN][1000 genomes]
rs12506515	0.82[ASN][1000 genomes]
rs12506585	0.82[ASN][1000 genomes]
rs12511631	0.96[ASN][1000 genomes]
rs17002580	0.83[ASN][1000 genomes]
rs1806738	0.97[ASN][1000 genomes]
rs67295944	0.96[ASN][1000 genomes]
rs72648554	0.82[ASN][1000 genomes]
rs72648556	0.82[ASN][1000 genomes]
rs72648557	0.82[ASN][1000 genomes]
rs72648559	0.82[ASN][1000 genomes]
rs72648560	0.83[ASN][1000 genomes]
rs72648563	0.97[ASN][1000 genomes]
rs72648565	0.97[ASN][1000 genomes]
rs72648566	0.96[ASN][1000 genomes]
rs72648573	0.96[ASN][1000 genomes]
rs72648578	0.97[ASN][1000 genomes]
rs72648581	0.97[ASN][1000 genomes]
rs72648583	0.97[ASN][1000 genomes]
rs72648584	0.97[ASN][1000 genomes]
rs72648585	0.97[ASN][1000 genomes]
rs72648586	0.97[ASN][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	nsv1006017	chr4:78139780-78312974	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1010450	chr4:78182037-78317840	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1004824	chr4:78188691-78312974	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1845782	chr4:78237955-78321598	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829974	chr4:78240718-78415642	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3442840	chr4:78277532-78309591	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv594698	chr4:78291876-78334483	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv967998	chr4:78301212-78311035	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78308200-78311200	Weak transcription	Fetal Intestine Large	intestine
2	chr4:78308800-78309400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr4:78308800-78309400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:78308800-78309400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:78308800-78309800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:78308800-78310200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr4:78308800-78310400	Enhancers	Fetal Muscle Leg	muscle
8	chr4:78309000-78309600	Enhancers	Psoas Muscle	Psoas
9	chr4:78309200-78309400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:78309200-78311800	Weak transcription	Aorta	Aorta

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