Variant report

Variant	rs62014673
Chromosome Location	chr15:34364207-34364208
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	chr15:34361453..34364220-chr15:34368679..34370797,2	K562	blood:
2	chr15:34362589..34365348-chr15:34368462..34371323,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11634415	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11634610	0.80[EUR][1000 genomes]
rs11634771	0.80[EUR][1000 genomes]
rs12443077	0.81[ASN][1000 genomes]
rs12903907	0.85[ASN][1000 genomes]
rs12917116	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436922	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2279423	0.81[ASN][1000 genomes]
rs2705338	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34474029	0.81[EUR][1000 genomes]
rs35804445	0.83[EUR][1000 genomes]
rs4779657	0.80[EUR][1000 genomes]
rs4780203	0.83[EUR][1000 genomes]
rs541098	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62014670	0.91[EUR][1000 genomes]
rs62014671	0.92[EUR][1000 genomes]
rs62014674	0.85[EUR][1000 genomes]
rs71464844	0.92[EUR][1000 genomes]
rs7168640	0.90[EUR][1000 genomes]
rs7175933	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8030094	0.83[EUR][1000 genomes]
rs8033781	0.93[EUR][1000 genomes]
rs8039219	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	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
5	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62014673	AVEN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34354200-34372400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:34354200-34375600	Weak transcription	Brain Substantia Nigra	brain
3	chr15:34354200-34376400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:34354400-34379600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:34355000-34369000	Weak transcription	Liver	Liver
6	chr15:34358600-34393000	Weak transcription	Aorta	Aorta
7	chr15:34361800-34375200	Weak transcription	Left Ventricle	heart
8	chr15:34363200-34364600	Weak transcription	HSMMtube	muscle

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