Variant report

Variant	rs7719858
Chromosome Location	chr5:117895609-117895610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:117893334..117895634-chr5:117899247..117902608,3	K562	blood:
2	chr5:117892457..117896152-chr5:117898946..117902524,3	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10035809	0.89[EUR][1000 genomes]
rs10038758	0.89[EUR][1000 genomes]
rs10040295	0.84[EUR][1000 genomes]
rs10040303	0.84[EUR][1000 genomes]
rs10051807	0.84[EUR][1000 genomes]
rs10054774	0.84[EUR][1000 genomes]
rs10069611	0.84[EUR][1000 genomes]
rs10519555	0.84[EUR][1000 genomes]
rs12110271	0.84[EUR][1000 genomes]
rs13187515	0.83[EUR][1000 genomes]
rs1429730	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1429731	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1864330	0.84[EUR][1000 genomes]
rs1864331	0.84[EUR][1000 genomes]
rs34457532	0.82[EUR][1000 genomes]
rs35558754	0.83[EUR][1000 genomes]
rs35561449	0.82[EUR][1000 genomes]
rs35767330	0.83[EUR][1000 genomes]
rs36020800	0.83[EUR][1000 genomes]
rs36072947	0.82[EUR][1000 genomes]
rs66524140	0.82[EUR][1000 genomes]
rs6885538	0.84[EUR][1000 genomes]
rs6885552	0.84[EUR][1000 genomes]
rs6885715	0.84[EUR][1000 genomes]
rs7448528	0.84[EUR][1000 genomes]
rs7704356	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7705821	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7716116	0.84[EUR][1000 genomes]
rs7718877	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7737007	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7737327	0.84[EUR][1000 genomes]
rs7737856	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs970368	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
6	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
7	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
8	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
9	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
10	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
11	nsv1021863	chr5:117832733-117955524	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv462424	chr5:117843869-117955570	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv599539	chr5:117843869-117955570	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv462425	chr5:117843869-117967472	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv599540	chr5:117843869-117967472	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv599541	chr5:117869174-118049776	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv1024374	chr5:117882620-117909965	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv882764	chr5:117884766-118014946	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv1027667	chr5:117891559-118036578	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv882765	chr5:117893138-118020617	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv882766	chr5:117893138-118032245	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117892600-117896000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:117894400-117895800	Weak transcription	Fetal Lung	lung
3	chr5:117894600-117897800	Active TSS	Right Atrium	heart
4	chr5:117894800-117896800	Enhancers	Fetal Heart	heart
5	chr5:117895000-117896400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:117895200-117901200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:117895400-117895800	Enhancers	Brain Germinal Matrix	brain
8	chr5:117895600-117895800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:117895600-117896200	Active TSS	Left Ventricle	heart
10	chr5:117895600-117896400	Enhancers	Ovary	ovary

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