Variant report

Variant	rs544114
Chromosome Location	chr15:34288320-34288321
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11856529	0.87[EUR][1000 genomes]
rs2684939	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2684953	0.93[ASN][1000 genomes]
rs2702281	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2702282	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2702306	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28870091	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs478125	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs489832	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5016373	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs511422	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs525591	0.94[ASN][1000 genomes]
rs55805034	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs563663	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs569035	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs602807	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs603152	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs604041	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs635531	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs644585	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646950	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6495421	0.86[EUR][1000 genomes]
rs6495422	0.86[EUR][1000 genomes]
rs6495423	0.86[EUR][1000 genomes]
rs6495424	0.86[EUR][1000 genomes]
rs6495425	0.86[EUR][1000 genomes]
rs6495426	0.86[EUR][1000 genomes]
rs7177293	0.84[ASN][1000 genomes]
rs8024385	0.95[ASN][1000 genomes]
rs8038713	0.86[EUR][1000 genomes]
rs8040776	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1044844	chr15:34065524-34296829	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv903985	chr15:34279319-34370487	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs544114	AVEN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34265200-34299600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:34265400-34294200	Weak transcription	Fetal Stomach	stomach
3	chr15:34265400-34311800	Weak transcription	Liver	Liver
4	chr15:34274400-34311000	Weak transcription	Primary B cells from cord blood	blood
5	chr15:34275400-34293200	Weak transcription	Primary T cells from cord blood	blood
6	chr15:34277400-34291200	Weak transcription	Aorta	Aorta
7	chr15:34277800-34303200	Weak transcription	Gastric	stomach
8	chr15:34278200-34310000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:34278400-34299600	Weak transcription	HSMM	muscle
10	chr15:34280800-34296200	Weak transcription	Pancreas	Pancrea
11	chr15:34281000-34306800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:34283000-34294600	Weak transcription	Left Ventricle	heart
13	chr15:34283000-34306000	Weak transcription	Ovary	ovary
14	chr15:34284200-34296800	Weak transcription	Brain Angular Gyrus	brain
15	chr15:34288000-34288400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:34288000-34288400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:34288000-34288600	ZNF genes & repeats	Fetal Intestine Small	intestine

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