Variant report

Variant	rs1198314
Chromosome Location	chr13:50369360-50369361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs1009334	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1198316	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1198318	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1198326	1.00[EUR][1000 genomes]
rs1198331	0.95[EUR][1000 genomes]
rs1923661	1.00[EUR][1000 genomes]
rs1967761	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2407701	0.95[EUR][1000 genomes]
rs2897769	0.87[EUR][1000 genomes]
rs3903769	0.97[EUR][1000 genomes]
rs6561564	1.00[EUR][1000 genomes]
rs716371	0.97[EUR][1000 genomes]
rs7994774	0.97[EUR][1000 genomes]
rs8000298	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8000321	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9562920	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9562923	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9562924	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568315	0.88[EUR][1000 genomes]
rs9568319	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568320	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568327	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568328	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568331	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568332	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957475	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591301	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596178	0.88[EUR][1000 genomes]
rs9596179	0.88[EUR][1000 genomes]
rs9596190	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv900075	chr13:50331992-50376858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1198314	EBPL	cis	Nerve Tibial	GTEx
rs1198314	EBPL	cis	Esophagus Muscularis	GTEx
rs1198314	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs1198314	EBPL	cis	Thyroid	GTEx
rs1198314	EBPL	cis	Artery Tibial	GTEx
rs1198314	EBPL	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50368000-50372600	Weak transcription	Spleen	Spleen
2	chr13:50368400-50378600	Weak transcription	HepG2	liver
3	chr13:50368600-50374400	Weak transcription	Placenta	Placenta
4	chr13:50369200-50369400	Enhancers	Fetal Thymus	thymus
5	chr13:50369200-50370200	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links