Variant report

Variant	rs2887915
Chromosome Location	chr2:211554574-211554575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10171279	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10194936	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10490320	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887861	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12464089	0.99[ASN][1000 genomes]
rs12623361	0.98[ASN][1000 genomes]
rs13386028	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13402511	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16844788	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16844800	0.99[ASN][1000 genomes]
rs2371015	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2371016	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2371018	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2371021	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2371022	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2371023	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35863145	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4142151	0.98[ASN][1000 genomes]
rs4142152	0.98[ASN][1000 genomes]
rs4142153	0.98[ASN][1000 genomes]
rs4310998	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4381725	0.98[ASN][1000 genomes]
rs4467202	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4584964	0.98[ASN][1000 genomes]
rs4672588	0.99[ASN][1000 genomes]
rs5002316	0.98[ASN][1000 genomes]
rs59602419	0.92[ASN][1000 genomes]
rs6752652	0.97[ASN][1000 genomes]
rs9288420	0.85[AMR][1000 genomes];1.00[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	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv536136	chr2:211497528-211830019	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv821631	chr2:211528918-211658981	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2887915	ACADL	cis	parietal	SCAN
rs2887915	CRYGD	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211552400-211555400	Enhancers	Fetal Heart	heart

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