Variant report

Variant	rs2116525
Chromosome Location	chr1:166203374-166203375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10800195	0.82[ASN][1000 genomes]
rs10800196	0.82[ASN][1000 genomes]
rs10918380	0.82[ASN][1000 genomes]
rs12406386	0.80[ASN][1000 genomes]
rs12406413	0.82[ASN][1000 genomes]
rs12407378	0.82[ASN][1000 genomes]
rs12410486	0.82[ASN][1000 genomes]
rs12410779	0.82[ASN][1000 genomes]
rs1376660	0.82[ASN][1000 genomes]
rs1451605	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551178	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16856624	0.82[ASN][1000 genomes]
rs16856639	0.82[ASN][1000 genomes]
rs16856659	0.82[ASN][1000 genomes]
rs16856712	0.98[ASN][1000 genomes]
rs16856876	0.89[EUR][1000 genomes]
rs16857044	0.89[EUR][1000 genomes]
rs1993106	0.82[ASN][1000 genomes]
rs2163629	0.82[ASN][1000 genomes]
rs4072243	0.82[ASN][1000 genomes]
rs4422983	0.89[EUR][1000 genomes]
rs4657519	0.82[ASN][1000 genomes]
rs4657521	0.82[ASN][1000 genomes]
rs6663116	0.82[ASN][1000 genomes]
rs6663205	0.82[ASN][1000 genomes]
rs6672329	0.82[ASN][1000 genomes]
rs6676350	0.82[ASN][1000 genomes]
rs73034629	0.82[ASN][1000 genomes]
rs73034634	0.82[ASN][1000 genomes]
rs73041277	0.82[ASN][1000 genomes]
rs73046941	0.82[ASN][1000 genomes]
rs73046946	0.82[ASN][1000 genomes]
rs73046954	0.82[ASN][1000 genomes]
rs74118982	0.82[ASN][1000 genomes]
rs74118983	0.82[ASN][1000 genomes]
rs74118984	0.82[ASN][1000 genomes]
rs7523055	0.80[ASN][1000 genomes]
rs7551664	0.82[ASN][1000 genomes]
rs966152	0.89[EUR][1000 genomes]
rs970519	0.82[ASN][1000 genomes]
rs973381	0.82[ASN][1000 genomes]
rs987131	0.82[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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1012972	chr1:166166695-166206473	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1009639	chr1:166174369-166222405	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv998231	chr1:166174516-166228386	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166203000-166203600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:166203200-166203400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:166203200-166203400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:166203200-166203600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:166203200-166203800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:166203200-166203800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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