Variant report

Variant	rs72793579
Chromosome Location	chr5:117797157-117797158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12513603	0.96[ASN][1000 genomes]
rs12514288	0.96[ASN][1000 genomes]
rs12515772	0.96[ASN][1000 genomes]
rs12515952	0.91[ASN][1000 genomes]
rs12516655	0.96[ASN][1000 genomes]
rs12518663	0.96[ASN][1000 genomes]
rs12518766	0.96[ASN][1000 genomes]
rs12522494	0.93[ASN][1000 genomes]
rs12522602	0.96[ASN][1000 genomes]
rs4131760	0.96[ASN][1000 genomes]
rs4131761	0.96[ASN][1000 genomes]
rs6595130	0.93[ASN][1000 genomes]
rs6595131	0.93[ASN][1000 genomes]
rs6595132	0.93[ASN][1000 genomes]
rs6595133	0.96[ASN][1000 genomes]
rs6878216	0.93[ASN][1000 genomes]
rs6878391	0.96[ASN][1000 genomes]
rs6878509	0.91[ASN][1000 genomes]
rs72793511	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs72793514	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs72793515	0.97[AFR][1000 genomes]
rs72793518	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs72793519	0.97[AFR][1000 genomes]
rs72793577	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs72793582	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72793584	0.98[ASN][1000 genomes]
rs72793590	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72793592	0.91[EUR][1000 genomes]
rs7442876	0.96[ASN][1000 genomes]
rs7726862	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027428	chr5:117072745-118036353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537877	chr5:117072745-118036353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1067621	chr5:117102544-118036352	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv531292	chr5:117102544-118036352	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2422395	chr5:117442806-117887910	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv432802	chr5:117612408-117921244	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv2758013	chr5:117664725-117942247	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv2759373	chr5:117664725-117942247	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv462422	chr5:117740545-118020706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv599529	chr5:117740545-118020706	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv599530	chr5:117748700-117870746	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv599531	chr5:117754697-117870746	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv599532	chr5:117770863-117831913	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv599533	chr5:117770863-117870746	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv2760967	chr5:117778941-117809332	Enhancers Weak transcription Flanking Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv599534	chr5:117780062-117870746	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv427731	chr5:117781143-118023504	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	esv2757135	chr5:117785589-117864206	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv528521	chr5:117793509-117799807	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
20	nsv599535	chr5:117793509-117870746	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv462423	chr5:117793509-117884766	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv599536	chr5:117793509-117884766	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117783600-117807000	Weak transcription	Left Ventricle	heart
2	chr5:117796400-117797600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:117796800-117797600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:117797000-117797200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:117797000-117797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:117797000-117797600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links