Variant report

Variant	rs635531
Chromosome Location	chr15:34299910-34299911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34293916..34296851-chr15:34297382..34300502,4	K562	blood:
2	chr15:34299066..34301596-chr15:34326883..34329699,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11856529	0.84[EUR][1000 genomes]
rs2684939	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2684953	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2702281	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2702282	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2702306	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28471985	0.83[ASN][1000 genomes]
rs28870091	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs478125	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs489832	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5016373	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs511422	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs525591	0.98[ASN][1000 genomes]
rs544114	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55805034	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs563663	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs569035	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs602807	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs603152	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs604041	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61611317	0.83[ASN][1000 genomes]
rs644585	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs646950	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6495421	0.83[EUR][1000 genomes]
rs6495422	0.83[EUR][1000 genomes]
rs6495423	0.83[EUR][1000 genomes]
rs6495424	0.83[EUR][1000 genomes]
rs6495425	0.83[EUR][1000 genomes]
rs6495426	0.83[EUR][1000 genomes]
rs6495448	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs7177293	0.82[ASN][1000 genomes]
rs8024385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8030334	0.96[CEU][hapmap]
rs8038713	0.83[EUR][1000 genomes]
rs8040776	0.82[AMR][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	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	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
rs635531	AVEN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34265400-34311800	Weak transcription	Liver	Liver
2	chr15:34274400-34311000	Weak transcription	Primary B cells from cord blood	blood
3	chr15:34277800-34303200	Weak transcription	Gastric	stomach
4	chr15:34278200-34310000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:34281000-34306800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:34283000-34306000	Weak transcription	Ovary	ovary
7	chr15:34289400-34303800	Weak transcription	Psoas Muscle	Psoas
8	chr15:34292000-34315000	Weak transcription	Aorta	Aorta
9	chr15:34294800-34315600	Weak transcription	Left Ventricle	heart
10	chr15:34295400-34304000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr15:34297000-34306800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:34299600-34300400	Enhancers	HSMM	muscle

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