Variant report

Variant	rs6495434
Chromosome Location	chr15:34281080-34281081
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10519901	0.97[ASN][1000 genomes]
rs12913387	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16954025	0.97[ASN][1000 genomes]
rs16958529	0.98[ASN][1000 genomes]
rs17236700	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4780196	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4780197	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532720	0.89[EUR][1000 genomes]
rs7177186	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383763	0.90[ASN][1000 genomes]
rs8042524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042530	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv456790	chr15:34264018-34281733	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv568923	chr15:34264018-34281733	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	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
rs6495434	AVEN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34238000-34282400	Weak transcription	Ovary	ovary
2	chr15:34264800-34281200	Weak transcription	GM12878-XiMat	blood
3	chr15:34265200-34299600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:34265400-34294200	Weak transcription	Fetal Stomach	stomach
5	chr15:34265400-34311800	Weak transcription	Liver	Liver
6	chr15:34274400-34311000	Weak transcription	Primary B cells from cord blood	blood
7	chr15:34275400-34293200	Weak transcription	Primary T cells from cord blood	blood
8	chr15:34277400-34291200	Weak transcription	Aorta	Aorta
9	chr15:34277600-34284200	Weak transcription	Thymus	Thymus
10	chr15:34277800-34303200	Weak transcription	Gastric	stomach
11	chr15:34278200-34310000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:34278400-34299600	Weak transcription	HSMM	muscle
13	chr15:34279000-34288000	Weak transcription	Fetal Intestine Small	intestine
14	chr15:34279400-34281200	Enhancers	HepG2	liver
15	chr15:34280000-34281400	Weak transcription	Spleen	Spleen
16	chr15:34280000-34282400	Weak transcription	Right Atrium	heart
17	chr15:34280400-34281200	Enhancers	HUVEC	blood vessel
18	chr15:34280400-34282400	Weak transcription	Left Ventricle	heart
19	chr15:34280600-34281200	Enhancers	Osteobl	bone
20	chr15:34280800-34283400	Weak transcription	Brain Angular Gyrus	brain
21	chr15:34280800-34296200	Weak transcription	Pancreas	Pancrea
22	chr15:34281000-34282600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:34281000-34283800	Weak transcription	Brain Substantia Nigra	brain
24	chr15:34281000-34306800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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