Variant report

Variant	rs8040776
Chromosome Location	chr15:34335230-34335231
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34334263..34336423-chr15:34338264..34339840,2	K562	blood:
2	chr15:34332870..34334555-chr15:34335095..34337616,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1872806	0.85[ASN][1000 genomes]
rs2078561	0.86[ASN][1000 genomes]
rs2078562	0.85[ASN][1000 genomes]
rs2243858	0.85[ASN][1000 genomes]
rs2632075	0.85[ASN][1000 genomes]
rs2632078	0.85[ASN][1000 genomes]
rs2632079	0.85[ASN][1000 genomes]
rs2632107	0.85[ASN][1000 genomes]
rs2684931	0.85[ASN][1000 genomes]
rs2684932	0.85[ASN][1000 genomes]
rs2684939	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2684941	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2684943	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2684956	0.80[ASN][1000 genomes]
rs2702278	0.83[ASN][1000 genomes]
rs2702281	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2702282	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2702284	0.85[ASN][1000 genomes]
rs2702285	0.85[ASN][1000 genomes]
rs2702306	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28870091	0.80[AMR][1000 genomes]
rs3861194	0.80[ASN][1000 genomes]
rs481391	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5016373	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs543621	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs544114	0.83[AMR][1000 genomes]
rs55805034	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs613479	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs625596	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs635531	0.82[AMR][1000 genomes]
rs682052	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs893138	0.80[ASN][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
rs8040776	AVEN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34332000-34339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:34332200-34337400	Weak transcription	HSMM	muscle
3	chr15:34332200-34339400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:34332400-34335600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:34332400-34335600	Weak transcription	Osteobl	bone
6	chr15:34332400-34335800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:34332400-34337400	Weak transcription	HSMMtube	muscle
8	chr15:34332400-34337600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:34332400-34337600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:34332400-34338000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr15:34332600-34337600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:34332800-34335600	Weak transcription	NH-A	brain
13	chr15:34332800-34335800	Weak transcription	HepG2	liver
14	chr15:34333000-34335600	Weak transcription	GM12878-XiMat	blood

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