Variant report

Variant	rs4516390
Chromosome Location	chr2:187989554-187989555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr2:187989549-187989806	HepG2	liver:	n/a	chr2:187989692-187989701

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187989280..187992184-chr2:188006220..188008232,2	K562	blood:

Variant related genes	Relation type
RN7SKP42	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16828590	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16828645	1.00[YRI][hapmap]
rs16828669	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4600612	0.89[YRI][hapmap]
rs4614897	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56067996	0.83[AFR][1000 genomes]
rs6725883	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6727719	0.89[YRI][hapmap]
rs6756559	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979609	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979611	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979619	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979643	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979678	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979692	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979693	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979694	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979701	0.83[AFR][1000 genomes]
rs73981116	0.83[AFR][1000 genomes]
rs966879	0.83[AMR][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	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv875553	chr2:187856937-188067355	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834486	chr2:187876328-188032965	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv431857	chr2:187930023-188098798	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187989400-187990000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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