Variant report

Variant	rs533210
Chromosome Location	chr15:41486279-41486280
allele	C/T
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	POLR2A	chr15:41485714-41486631	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC012652.1.1-5	chr15:41485541-41487747	predAs_engstrom06_AA043058_1

Variant related genes	Relation type
EXD1	TF binding region
RN7SL497P	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10851403	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11852419	0.90[EUR][1000 genomes]
rs11855854	0.86[EUR][1000 genomes]
rs11856169	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13329235	0.93[EUR][1000 genomes]
rs13329579	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2448402	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28382348	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28493087	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28524914	0.91[EUR][1000 genomes]
rs28538451	0.90[EUR][1000 genomes]
rs28554139	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28827035	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs513280	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs521890	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs522063	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs691011	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs691629	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs691906	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs691907	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72737786	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72737792	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72737793	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8038983	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8043237	0.86[AMR][1000 genomes];0.91[EUR][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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs533210	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs533210	NDUFAF1	cis	Whole Blood	GTEx
rs533210	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs533210	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs533210	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs533210	NDUFAF1	cis	Muscle Skeletal	GTEx
rs533210	OIP5-AS1	cis	Artery Tibial	GTEx
rs533210	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs533210	OIP5-AS1	cis	Adipose Subcutaneous	GTEx
rs533210	NDUFAF1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41484400-41494400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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