Variant report

Variant	rs1717198
Chromosome Location	chr15:41465862-41465863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10152855	0.83[ASN][1000 genomes]
rs11070321	0.91[ASN][1000 genomes]
rs11855102	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11855797	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11858678	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12324159	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1659227	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16971693	0.83[ASN][1000 genomes]
rs16971700	0.80[ASN][1000 genomes]
rs1866400	0.83[ASN][1000 genomes]
rs1965140	0.80[EUR][1000 genomes]
rs1971131	0.94[ASN][1000 genomes]
rs1983400	0.80[EUR][1000 genomes]
rs2083239	0.84[EUR][1000 genomes]
rs2164996	0.81[EUR][1000 genomes]
rs2578655	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28409432	0.86[EUR][1000 genomes]
rs28493237	0.83[ASN][1000 genomes]
rs28495204	0.83[ASN][1000 genomes]
rs28516683	0.86[EUR][1000 genomes]
rs28665387	0.84[EUR][1000 genomes]
rs28828670	0.81[EUR][1000 genomes]
rs2899013	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2928141	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2928156	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2947493	0.80[EUR][1000 genomes]
rs2947494	0.80[EUR][1000 genomes]
rs41442144	0.81[ASN][1000 genomes]
rs4258585	0.83[ASN][1000 genomes]
rs4445868	0.85[EUR][1000 genomes]
rs537244	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs551482	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55756301	0.85[ASN][1000 genomes]
rs56082289	0.85[ASN][1000 genomes]
rs561301	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56837771	0.93[ASN][1000 genomes]
rs57943533	0.91[ASN][1000 genomes]
rs58083671	0.87[ASN][1000 genomes]
rs58644012	0.94[ASN][1000 genomes]
rs59389433	0.85[ASN][1000 genomes]
rs59616518	0.88[ASN][1000 genomes]
rs59691280	0.85[ASN][1000 genomes]
rs60249025	0.88[ASN][1000 genomes]
rs60422198	0.88[ASN][1000 genomes]
rs61495227	0.86[ASN][1000 genomes]
rs61586152	0.91[ASN][1000 genomes]
rs6492983	0.86[EUR][1000 genomes]
rs6492988	0.93[ASN][1000 genomes]
rs6492991	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6492993	0.85[EUR][1000 genomes]
rs6492994	0.82[EUR][1000 genomes]
rs66471237	0.86[ASN][1000 genomes]
rs66510055	0.87[ASN][1000 genomes]
rs66602495	0.93[ASN][1000 genomes]
rs67531333	0.87[ASN][1000 genomes]
rs68133575	0.94[ASN][1000 genomes]
rs690733	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs691672	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs691702	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs692153	0.90[EUR][1000 genomes]
rs692195	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs692335	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7162443	0.81[EUR][1000 genomes]
rs7165931	0.93[ASN][1000 genomes]
rs7166205	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7166905	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7170049	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7170913	0.88[ASN][1000 genomes]
rs7173086	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7173841	0.87[EUR][1000 genomes]
rs7178840	0.85[ASN][1000 genomes]
rs7179231	0.85[ASN][1000 genomes]
rs7179676	0.92[ASN][1000 genomes]
rs7179969	0.85[ASN][1000 genomes]
rs7180853	0.85[EUR][1000 genomes]
rs72737765	0.93[ASN][1000 genomes]
rs73396329	0.93[ASN][1000 genomes]
rs73396336	0.94[ASN][1000 genomes]
rs73396340	0.90[ASN][1000 genomes]
rs8023638	0.94[ASN][1000 genomes]
rs8026858	0.88[ASN][1000 genomes]
rs8027932	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8029792	0.94[ASN][1000 genomes]
rs8033435	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8035252	0.85[ASN][1000 genomes]
rs8037302	0.92[ASN][1000 genomes]
rs8038834	0.90[ASN][1000 genomes]
rs8039915	0.85[ASN][1000 genomes]
rs8039934	0.90[ASN][1000 genomes]
rs909023	0.82[ASN][1000 genomes]
rs909024	0.83[ASN][1000 genomes]
rs909025	0.83[ASN][1000 genomes]
rs9888710	0.86[EUR][1000 genomes]
rs9888718	0.87[EUR][1000 genomes]
rs9972345	0.93[ASN][1000 genomes]
rs9972349	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9972622	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9972623	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1717198	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs1717198	NDUFAF1	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41462600-41468000	Weak transcription	Primary monocytes fromperipheralblood	blood

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