Variant report

Variant	rs16841441
Chromosome Location	chr3:99340297-99340298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1355764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355765	0.84[GIH][hapmap];0.92[MEX][hapmap]
rs1513300	0.84[GIH][hapmap];0.92[MEX][hapmap]
rs1567784	0.94[ASN][1000 genomes]
rs16841561	0.91[JPT][hapmap]
rs16841568	0.91[JPT][hapmap]
rs1818482	0.94[ASN][1000 genomes]
rs2280505	0.84[MEX][hapmap]
rs3732447	0.91[JPT][hapmap]
rs3755597	0.91[JPT][hapmap]
rs3755599	0.91[JPT][hapmap]
rs4928205	0.89[ASN][1000 genomes]
rs4928206	0.89[ASN][1000 genomes]
rs4928211	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4928212	0.91[JPT][hapmap]
rs4928213	0.91[JPT][hapmap]
rs56773086	0.94[ASN][1000 genomes]
rs56905184	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58846871	0.89[ASN][1000 genomes]
rs67340958	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6780095	0.83[ASN][1000 genomes]
rs72928493	0.89[ASN][1000 genomes]
rs72928498	0.89[ASN][1000 genomes]
rs72930350	0.94[ASN][1000 genomes]
rs72930363	0.94[ASN][1000 genomes]
rs72930368	0.94[ASN][1000 genomes]
rs72930370	0.94[ASN][1000 genomes]
rs72932305	0.91[ASN][1000 genomes]
rs7613174	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs952924	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9682709	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530026	chr3:98837320-99340537	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3422853	chr3:99208019-99342748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs16841441	DCBLD2	cis	cerebellum	SCAN
rs16841441	EFCAB2	trans	brain	seeQTL
rs16841441	IMPG2	cis	parietal	SCAN
rs16841441	CSDA	trans	cerebellum	SCAN
rs16841441	TFG	cis	multi-tissue	Pritchard

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99333600-99345800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:99339000-99340400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:99339000-99341000	Enhancers	Hela-S3	cervix
4	chr3:99339000-99341400	Enhancers	HUVEC	blood vessel
5	chr3:99339200-99340400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:99339200-99343600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:99339400-99340600	Enhancers	NHDF-Ad	bronchial
8	chr3:99340200-99340400	Enhancers	Aorta	Aorta
9	chr3:99340200-99340800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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