Variant report

Variant	rs1518887
Chromosome Location	chr3:34430268-34430269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1013979	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1191622	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1191624	0.92[ASN][1000 genomes]
rs1191625	0.86[ASN][1000 genomes]
rs1211518	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1212278	0.92[ASN][1000 genomes]
rs12186048	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12487411	0.94[ASN][1000 genomes]
rs12629841	0.90[ASN][1000 genomes]
rs13083647	0.88[ASN][1000 genomes]
rs1317104	0.99[ASN][1000 genomes]
rs1358615	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358616	0.87[ASN][1000 genomes]
rs1406568	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1518885	0.95[ASN][1000 genomes]
rs1518886	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1529075	0.94[ASN][1000 genomes]
rs17031629	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17031637	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881685	0.96[ASN][1000 genomes]
rs1919621	0.94[ASN][1000 genomes]
rs1919622	0.87[ASN][1000 genomes]
rs1949470	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077806	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2167040	0.91[ASN][1000 genomes]
rs2218729	0.91[ASN][1000 genomes]
rs2951002	0.95[ASN][1000 genomes]
rs34843235	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34896219	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35488362	0.91[ASN][1000 genomes]
rs35703530	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35905703	0.91[ASN][1000 genomes]
rs35929503	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4533591	0.90[ASN][1000 genomes]
rs4678468	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4678469	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67251788	0.94[ASN][1000 genomes]
rs6768570	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6788612	0.82[EUR][1000 genomes]
rs6804250	0.90[ASN][1000 genomes]
rs9816663	0.90[ASN][1000 genomes]
rs9824579	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9842247	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9858557	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001599	chr3:34149575-34437701	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536533	chr3:34149575-34437701	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv916961	chr3:34203879-34506554	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1518887	EPM2AIP1	cis	cerebellum	SCAN
rs1518887	MYD88	cis	cerebellum	SCAN
rs1518887	CMTM8	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34423200-34430600	Weak transcription	Aorta	Aorta
2	chr3:34427400-34431200	Enhancers	Fetal Brain Male	brain
3	chr3:34428200-34431000	Enhancers	Fetal Brain Female	brain
4	chr3:34429000-34430400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:34430200-34431200	Enhancers	Placenta Amnion	Placenta Amnion

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