Variant report

Variant	rs8043237
Chromosome Location	chr15:41514298-41514299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41511538..41516439-chr15:41517024..41523224,9	K562	blood:
2	chr15:41511864..41514825-chr15:41521653..41523224,2	K562	blood:
3	chr15:41511538..41514696-chr15:41517185..41519800,3	K562	blood:

Variant related genes	Relation type
ENSG00000178997	Chromatin interaction
ENSG00000187446	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10518717	1.00[ASN][1000 genomes]
rs10851403	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070328	1.00[ASN][1000 genomes]
rs11629979	1.00[ASN][1000 genomes]
rs11630656	1.00[ASN][1000 genomes]
rs11630799	1.00[ASN][1000 genomes]
rs11635269	1.00[ASN][1000 genomes]
rs11635565	1.00[ASN][1000 genomes]
rs11852419	0.91[EUR][1000 genomes]
rs11854081	1.00[ASN][1000 genomes]
rs11854632	1.00[ASN][1000 genomes]
rs11854820	1.00[ASN][1000 genomes]
rs11855854	0.87[EUR][1000 genomes]
rs11855906	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11856169	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11858068	1.00[ASN][1000 genomes]
rs11858812	1.00[ASN][1000 genomes]
rs13313520	1.00[ASN][1000 genomes]
rs13329235	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329579	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971726	0.88[AMR][1000 genomes]
rs17730589	1.00[ASN][1000 genomes]
rs17730888	1.00[ASN][1000 genomes]
rs1866399	1.00[ASN][1000 genomes]
rs1899	1.00[ASN][1000 genomes]
rs2118740	1.00[ASN][1000 genomes]
rs2448402	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730056	1.00[ASN][1000 genomes]
rs28374715	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28377562	1.00[ASN][1000 genomes]
rs28382348	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28416360	1.00[ASN][1000 genomes]
rs28421136	1.00[ASN][1000 genomes]
rs28437576	1.00[ASN][1000 genomes]
rs28456082	1.00[ASN][1000 genomes]
rs28458941	1.00[ASN][1000 genomes]
rs28463309	1.00[ASN][1000 genomes]
rs28477406	1.00[ASN][1000 genomes]
rs28492932	1.00[ASN][1000 genomes]
rs28493087	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28493702	1.00[ASN][1000 genomes]
rs28524914	0.95[EUR][1000 genomes]
rs28535540	1.00[ASN][1000 genomes]
rs28538451	0.91[EUR][1000 genomes]
rs28554139	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28555198	1.00[ASN][1000 genomes]
rs28557159	1.00[ASN][1000 genomes]
rs28576457	1.00[ASN][1000 genomes]
rs28584379	1.00[ASN][1000 genomes]
rs28617619	1.00[ASN][1000 genomes]
rs28623183	1.00[ASN][1000 genomes]
rs28661013	1.00[ASN][1000 genomes]
rs28663426	1.00[ASN][1000 genomes]
rs28671712	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28673484	1.00[ASN][1000 genomes]
rs28687846	1.00[ASN][1000 genomes]
rs28700583	1.00[ASN][1000 genomes]
rs28703570	1.00[ASN][1000 genomes]
rs28712264	1.00[ASN][1000 genomes]
rs28716689	1.00[ASN][1000 genomes]
rs28827035	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28897479	1.00[ASN][1000 genomes]
rs3204853	1.00[ASN][1000 genomes]
rs34665396	1.00[ASN][1000 genomes]
rs513280	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521890	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522063	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533210	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55725658	1.00[ASN][1000 genomes]
rs56400990	1.00[ASN][1000 genomes]
rs59000092	1.00[ASN][1000 genomes]
rs6493000	1.00[ASN][1000 genomes]
rs6493003	1.00[ASN][1000 genomes]
rs691011	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691629	0.92[EUR][1000 genomes]
rs691906	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691907	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162231	1.00[ASN][1000 genomes]
rs7163989	1.00[ASN][1000 genomes]
rs7164211	1.00[ASN][1000 genomes]
rs7164684	1.00[ASN][1000 genomes]
rs7165396	1.00[ASN][1000 genomes]
rs7165914	1.00[ASN][1000 genomes]
rs7167706	1.00[ASN][1000 genomes]
rs7168002	1.00[ASN][1000 genomes]
rs7168307	1.00[ASN][1000 genomes]
rs7168431	1.00[ASN][1000 genomes]
rs7169543	1.00[ASN][1000 genomes]
rs7181982	1.00[ASN][1000 genomes]
rs7182324	1.00[ASN][1000 genomes]
rs72737786	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737792	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72739609	0.88[AMR][1000 genomes]
rs72739630	1.00[ASN][1000 genomes]
rs72739644	1.00[ASN][1000 genomes]
rs8023530	1.00[ASN][1000 genomes]
rs8034840	1.00[ASN][1000 genomes]
rs8036026	1.00[ASN][1000 genomes]
rs8036734	1.00[ASN][1000 genomes]
rs8037574	1.00[ASN][1000 genomes]
rs8038132	1.00[ASN][1000 genomes]
rs8038983	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041809	1.00[ASN][1000 genomes]
rs9568	1.00[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	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
2	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
3	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
4	esv1844058	chr15:41511916-41548948	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs8043237	NDUFAF1	cis	Whole Blood	GTEx
rs8043237	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs8043237	NDUFAF1	cis	multi-tissue	Pritchard
rs8043237	NDUFAF1	cis	Thyroid	GTEx
rs8043237	NDUFAF1	cis	Muscle Skeletal	GTEx
rs8043237	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs8043237	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs8043237	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs8043237	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs8043237	OIP5-AS1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41511600-41522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:41513000-41517200	Weak transcription	HepG2	liver

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