Variant report

Variant	rs13329240
Chromosome Location	chr15:41480694-41480695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs16971562	0.91[ASN][1000 genomes]
rs16971576	0.93[ASN][1000 genomes]
rs16971647	0.85[ASN][1000 genomes]
rs16971651	0.85[ASN][1000 genomes]
rs16971653	0.85[ASN][1000 genomes]
rs16971654	0.85[ASN][1000 genomes]
rs16971733	0.83[EUR][1000 genomes]
rs16971735	0.83[EUR][1000 genomes]
rs2090826	0.85[ASN][1000 genomes]
rs2099652	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2118739	0.90[ASN][1000 genomes]
rs2412607	0.85[ASN][1000 genomes]
rs28417774	0.83[EUR][1000 genomes]
rs28626792	0.83[EUR][1000 genomes]
rs28889391	0.85[ASN][1000 genomes]
rs55787465	0.85[ASN][1000 genomes]
rs55952963	0.85[ASN][1000 genomes]
rs56262456	0.85[ASN][1000 genomes]
rs56815966	0.86[ASN][1000 genomes]
rs57009745	0.85[ASN][1000 genomes]
rs57896923	0.83[ASN][1000 genomes]
rs58060180	0.83[ASN][1000 genomes]
rs58436082	0.83[ASN][1000 genomes]
rs58851405	0.85[ASN][1000 genomes]
rs6492995	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6492996	0.86[EUR][1000 genomes]
rs7165551	0.85[ASN][1000 genomes]
rs7166182	0.84[ASN][1000 genomes]
rs7167142	0.82[ASN][1000 genomes]
rs8025660	0.89[ASN][1000 genomes]
rs8025916	0.85[ASN][1000 genomes]
rs8030683	0.85[ASN][1000 genomes]
rs8030706	0.85[ASN][1000 genomes]
rs8030712	0.85[ASN][1000 genomes]
rs8030732	0.85[ASN][1000 genomes]
rs8030954	0.85[ASN][1000 genomes]
rs8034073	0.84[EUR][1000 genomes]
rs8034924	0.82[EUR][1000 genomes]
rs8036686	0.82[EUR][1000 genomes]
rs8038103	0.92[ASN][1000 genomes]
rs9672309	0.93[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	nsv569229	chr15:41361138-41483682	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv904107	chr15:41361138-41493013	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv569230	chr15:41384649-41483682	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv904108	chr15:41384649-41486990	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv904109	chr15:41410705-41481254	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv457120	chr15:41410705-41546631	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv569231	chr15:41410705-41546631	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1039906	chr15:41476209-41518976	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs13329240	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs13329240	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs13329240	NDUFAF1	cis	Muscle Skeletal	GTEx
rs13329240	NDUFAF1	cis	Thyroid	GTEx
rs13329240	NDUFAF1	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41480400-41480800	Enhancers	Fetal Brain Male	brain

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