Variant report

Variant	rs12519375
Chromosome Location	chr5:116181391-116181392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10035572	0.83[AMR][1000 genomes]
rs10051209	0.81[EUR][1000 genomes]
rs10053269	0.83[AMR][1000 genomes]
rs10053279	0.83[AMR][1000 genomes]
rs10069564	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10073924	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035861	0.81[EUR][1000 genomes]
rs10463688	0.81[AMR][1000 genomes]
rs10478313	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241405	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11956132	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515487	0.95[ASN][1000 genomes]
rs12515978	0.82[AMR][1000 genomes]
rs12517201	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12521549	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175939	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1366158	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1366159	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1428007	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153582	0.94[ASN][1000 genomes]
rs153585	0.94[ASN][1000 genomes]
rs153586	0.94[ASN][1000 genomes]
rs1863966	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253895	0.92[ASN][1000 genomes]
rs253896	0.93[ASN][1000 genomes]
rs253897	0.94[ASN][1000 genomes]
rs253899	0.94[ASN][1000 genomes]
rs46588	0.92[ASN][1000 genomes]
rs722958	0.83[AMR][1000 genomes]
rs9942388	0.85[EUR][1000 genomes]
rs999415	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv462403	chr5:115994775-116284378	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv599485	chr5:115994775-116284378	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1030056	chr5:116008971-116278725	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1033140	chr5:116035131-116314673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1027701	chr5:116138286-116185586	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116181000-116182000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:116181000-116189800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:116181200-116181800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:116181200-116182000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:116181200-116182000	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links