Variant report

Variant	rs8033781
Chromosome Location	chr15:34354739-34354740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34351759..34355755-chr15:34876768..34880095,3	K562	blood:
2	chr15:34330652..34332869-chr15:34354366..34356366,2	K562	blood:
3	chr15:34353791..34354768-chr15:34501906..34502891,4	K562	blood:
4	chr15:34354339..34357870-chr15:34358322..34362266,6	K562	blood:
5	chr15:34353917..34354774-chr15:34879983..34880925,3	MCF-7	breast:
6	chr15:34353900..34354754-chr15:34880301..34880822,2	K562	blood:

Variant related genes	Relation type
ENSG00000215252	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000169857	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11634415	0.82[EUR][1000 genomes]
rs11635479	0.80[AMR][1000 genomes]
rs11638109	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12898898	0.80[AMR][1000 genomes]
rs12917116	0.93[EUR][1000 genomes]
rs2339352	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2684940	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2705338	0.82[EUR][1000 genomes]
rs34474029	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35531038	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35804445	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4477671	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4779656	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4780203	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs541098	0.95[EUR][1000 genomes]
rs62014670	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62014671	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62014673	0.93[EUR][1000 genomes]
rs62014674	0.80[EUR][1000 genomes]
rs6495442	0.80[AMR][1000 genomes]
rs6495443	0.80[AMR][1000 genomes]
rs66530874	0.80[AMR][1000 genomes]
rs67739072	0.80[AMR][1000 genomes]
rs71464844	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7162140	0.80[AMR][1000 genomes]
rs7168640	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7173183	0.80[AMR][1000 genomes]
rs7175823	0.80[AMR][1000 genomes]
rs72718678	0.80[AMR][1000 genomes]
rs72718682	0.80[AMR][1000 genomes]
rs8030094	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8039219	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
rs8033781	AVEN	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34349000-34358000	Weak transcription	Aorta	Aorta
2	chr15:34349200-34357000	Weak transcription	NHEK	skin
3	chr15:34349400-34357000	Weak transcription	HMEC	breast
4	chr15:34349400-34358000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:34354200-34357200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:34354200-34372400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:34354200-34375600	Weak transcription	Brain Substantia Nigra	brain
8	chr15:34354200-34376400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:34354400-34379600	Weak transcription	Brain Cingulate Gyrus	brain

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