Variant report

Variant	rs2702281
Chromosome Location	chr15:34317987-34317988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11856529	0.84[EUR][1000 genomes]
rs1872806	0.99[ASN][1000 genomes]
rs2078561	0.97[ASN][1000 genomes]
rs2078562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2243858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2339351	0.86[ASN][1000 genomes]
rs2632075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2632076	1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs2632078	0.99[ASN][1000 genomes]
rs2632079	0.99[ASN][1000 genomes]
rs2632107	0.99[ASN][1000 genomes]
rs2684931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2684932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2684933	0.85[ASN][1000 genomes]
rs2684939	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2684941	0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2684943	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2684956	0.94[ASN][1000 genomes]
rs2684958	0.91[ASN][1000 genomes]
rs2702278	0.97[ASN][1000 genomes]
rs2702282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2702284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2702285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2702306	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28870091	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs478125	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs481391	0.84[ASN][1000 genomes]
rs489832	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5016373	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511422	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs543621	0.84[ASN][1000 genomes]
rs544114	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55805034	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs563663	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs569035	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs602807	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs603152	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs604041	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs613479	0.84[ASN][1000 genomes]
rs625596	0.84[ASN][1000 genomes]
rs635531	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs644585	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs646950	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6495421	0.84[EUR][1000 genomes]
rs6495422	0.84[EUR][1000 genomes]
rs6495423	0.84[EUR][1000 genomes]
rs6495424	0.84[EUR][1000 genomes]
rs6495425	0.84[EUR][1000 genomes]
rs6495426	0.84[EUR][1000 genomes]
rs6495459	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs682052	0.85[ASN][1000 genomes]
rs718690	0.85[ASN][1000 genomes]
rs8030334	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs8038713	0.84[EUR][1000 genomes]
rs8040776	0.84[AMR][1000 genomes];0.86[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	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
rs2702281	AVEN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34304200-34319800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr15:34309400-34330000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:34309600-34330000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:34311000-34318600	Weak transcription	Primary T cells from cord blood	blood
5	chr15:34314200-34326400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:34316600-34329400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:34317200-34318000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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