Variant report

Variant	rs12631100
Chromosome Location	chr3:21971477-21971478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10510520	0.90[ASN][1000 genomes]
rs11129035	0.84[ASN][1000 genomes]
rs11129036	0.84[ASN][1000 genomes]
rs12487974	0.84[ASN][1000 genomes]
rs12488821	0.84[ASN][1000 genomes]
rs12489517	0.84[ASN][1000 genomes]
rs12489570	0.84[ASN][1000 genomes]
rs12634207	0.85[ASN][1000 genomes]
rs12634535	0.84[ASN][1000 genomes]
rs12636900	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12638192	0.81[ASN][1000 genomes]
rs12639321	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1383075	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1479960	0.85[ASN][1000 genomes]
rs166317	0.84[ASN][1000 genomes]
rs17644025	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17644255	0.85[ASN][1000 genomes]
rs2291818	0.81[ASN][1000 genomes]
rs2291819	0.84[ASN][1000 genomes]
rs2291820	0.81[ASN][1000 genomes]
rs2336520	0.81[ASN][1000 genomes]
rs3821391	0.83[ASN][1000 genomes]
rs559467	0.85[ASN][1000 genomes]
rs563129	0.85[ASN][1000 genomes]
rs58842146	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66530626	0.82[ASN][1000 genomes]
rs67125873	0.84[ASN][1000 genomes]
rs6763267	0.85[ASN][1000 genomes]
rs6765798	0.85[ASN][1000 genomes]
rs68055552	0.84[ASN][1000 genomes]
rs72625846	0.87[AMR][1000 genomes]
rs72625849	0.84[ASN][1000 genomes]
rs72625850	0.85[ASN][1000 genomes]
rs7619247	0.84[ASN][1000 genomes]
rs7642008	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2751992	chr3:21786893-22212357	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv948555	chr3:21786893-22212357	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv834632	chr3:21803941-21974082	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1003085	chr3:21887971-22415107	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv834633	chr3:21918264-22088338	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv876614	chr3:21919039-21994022	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv876616	chr3:21946847-22310622	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv876617	chr3:21955784-22310622	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1003934	chr3:21960795-21999895	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21963000-21971800	Weak transcription	NHDF-Ad	bronchial
2	chr3:21971400-21971800	Enhancers	Fetal Heart	heart

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