Variant report

Variant	rs7170049
Chromosome Location	chr15:41484287-41484288
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr15:41484256-41484442	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41045965..41048868-chr15:41482776..41485356,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INO80-3	chr15:41484165-41484463	NONHSAT041916

Variant related genes	Relation type
EXD1	TF binding region
ENSG00000137824	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10152855	0.88[ASN][1000 genomes]
rs11070321	0.96[ASN][1000 genomes]
rs11070325	0.80[ASN][1000 genomes]
rs11853192	0.82[EUR][1000 genomes]
rs11855102	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11855797	0.84[EUR][1000 genomes]
rs11858115	0.89[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes]
rs11858678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12324159	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1659227	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16971693	0.94[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs16971700	0.85[ASN][1000 genomes]
rs1717198	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1866400	0.94[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs1965139	0.84[EUR][1000 genomes]
rs1965140	0.85[EUR][1000 genomes]
rs1971131	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1983400	0.83[EUR][1000 genomes]
rs2083239	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2164996	0.88[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs2578655	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28409265	0.83[EUR][1000 genomes]
rs28409432	0.89[EUR][1000 genomes]
rs28493237	0.88[ASN][1000 genomes]
rs28495204	0.88[ASN][1000 genomes]
rs28510775	0.81[EUR][1000 genomes]
rs28516683	0.89[EUR][1000 genomes]
rs28568756	0.84[EUR][1000 genomes]
rs28613002	0.82[EUR][1000 genomes]
rs28665387	0.88[EUR][1000 genomes]
rs28688742	0.82[EUR][1000 genomes]
rs28735224	0.84[EUR][1000 genomes]
rs28828670	0.83[EUR][1000 genomes]
rs2899013	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2918462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2928141	0.95[ASN][1000 genomes]
rs2928156	0.87[EUR][1000 genomes]
rs2947493	0.83[EUR][1000 genomes]
rs2947494	0.83[EUR][1000 genomes]
rs41442144	0.86[ASN][1000 genomes]
rs4258585	0.88[ASN][1000 genomes]
rs4419033	0.83[EUR][1000 genomes]
rs4445868	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4592624	0.82[EUR][1000 genomes]
rs476633	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs494490	0.89[GIH][hapmap];0.87[TSI][hapmap]
rs537244	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs551482	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55756301	0.89[ASN][1000 genomes]
rs56082289	0.89[ASN][1000 genomes]
rs561301	0.89[EUR][1000 genomes]
rs56837771	0.98[ASN][1000 genomes]
rs57943533	0.96[ASN][1000 genomes]
rs58083671	0.92[ASN][1000 genomes]
rs58644012	0.94[ASN][1000 genomes]
rs59389433	0.89[ASN][1000 genomes]
rs59616518	0.93[ASN][1000 genomes]
rs59691280	0.89[ASN][1000 genomes]
rs60249025	0.93[ASN][1000 genomes]
rs60422198	0.93[ASN][1000 genomes]
rs61495227	0.91[ASN][1000 genomes]
rs61586152	0.93[ASN][1000 genomes]
rs6492983	0.88[EUR][1000 genomes]
rs6492988	0.98[ASN][1000 genomes]
rs6492991	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6492992	0.84[ASN][1000 genomes]
rs6492993	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6492994	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6492997	0.89[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.80[JPT][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes]
rs6492998	0.83[TSI][hapmap]
rs66471237	0.91[ASN][1000 genomes]
rs66510055	0.92[ASN][1000 genomes]
rs66602495	0.93[ASN][1000 genomes]
rs67531333	0.92[ASN][1000 genomes]
rs68133575	0.94[ASN][1000 genomes]
rs690733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs691672	0.89[EUR][1000 genomes]
rs691702	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs692153	0.88[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs692195	0.89[EUR][1000 genomes]
rs692335	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7162443	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7162503	0.81[EUR][1000 genomes]
rs7165931	0.98[ASN][1000 genomes]
rs7166205	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7166905	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7167813	0.83[EUR][1000 genomes]
rs7170913	0.93[ASN][1000 genomes]
rs7173086	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7173841	0.90[EUR][1000 genomes]
rs7175912	0.89[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.91[TSI][hapmap]
rs7178840	0.94[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs7179231	0.94[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs7179676	0.97[ASN][1000 genomes]
rs7179969	0.94[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs7180853	0.87[EUR][1000 genomes]
rs72737765	0.93[ASN][1000 genomes]
rs73396329	0.93[ASN][1000 genomes]
rs73396336	0.93[ASN][1000 genomes]
rs73396340	0.90[ASN][1000 genomes]
rs8023638	0.95[ASN][1000 genomes]
rs8026858	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8027932	0.87[EUR][1000 genomes]
rs8029792	0.94[ASN][1000 genomes]
rs8032589	0.89[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs8033435	0.89[EUR][1000 genomes]
rs8035252	0.94[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs8037302	0.92[ASN][1000 genomes]
rs8038834	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8039014	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs8039915	0.89[ASN][1000 genomes]
rs8039934	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8043253	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs909023	0.94[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs909024	0.88[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs909025	0.89[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs9888710	0.89[EUR][1000 genomes]
rs9888718	0.90[EUR][1000 genomes]
rs9972345	0.98[ASN][1000 genomes]
rs9972349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972622	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972623	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[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	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
2	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
3	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
4	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
5	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
rs7170049	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs7170049	NDUFAF1	cis	Muscle Skeletal	GTEx
rs7170049	NDUFAF1	cis	lymphoblastoid	seeQTL
rs7170049	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs7170049	NDUFAF1	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41483600-41484400	Enhancers	Colon Smooth Muscle	Colon
2	chr15:41484200-41484400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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