Variant report

Variant	rs1516456
Chromosome Location	chr2:189754264-189754265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1155803	0.98[ASN][1000 genomes]
rs13004114	0.82[ASN][1000 genomes]
rs13009963	0.85[ASN][1000 genomes]
rs13010226	0.85[ASN][1000 genomes]
rs13010373	0.86[ASN][1000 genomes]
rs13013611	0.85[ASN][1000 genomes]
rs1400230	0.85[ASN][1000 genomes]
rs1516444	0.85[ASN][1000 genomes]
rs1516445	0.85[ASN][1000 genomes]
rs1543150	0.85[ASN][1000 genomes]
rs16830870	0.85[ASN][1000 genomes]
rs1829137	0.89[ASN][1000 genomes]
rs1850275	0.94[ASN][1000 genomes]
rs1850277	0.88[ASN][1000 genomes]
rs1878203	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1878205	0.86[ASN][1000 genomes]
rs1914031	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1914032	0.96[ASN][1000 genomes]
rs1996312	0.85[ASN][1000 genomes]
rs2037188	0.85[ASN][1000 genomes]
rs2037189	0.93[AMR][1000 genomes]
rs2056157	0.86[ASN][1000 genomes]
rs2067991	0.98[ASN][1000 genomes]
rs2459409	0.85[ASN][1000 genomes]
rs2708203	0.96[ASN][1000 genomes]
rs4666766	0.86[ASN][1000 genomes]
rs4666767	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6434301	0.86[ASN][1000 genomes]
rs6712676	0.98[ASN][1000 genomes]
rs6734088	0.89[ASN][1000 genomes]
rs7567967	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7575426	0.86[ASN][1000 genomes]
rs7607018	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[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	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875608	chr2:189753823-189837995	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189739000-189755600	Weak transcription	Aorta	Aorta
2	chr2:189753800-189757200	Weak transcription	Fetal Lung	lung

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