Variant report

Variant	rs58158543
Chromosome Location	chr15:78208021-78208022
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	CTCF	chr15:78207952-78208170	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr15:78207980-78208130	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr15:78207940-78208090	HFF-Myc	foreskin:	n/a	n/a
4	CTCF	chr15:78207993-78208098	MCF-7	breast:	n/a	n/a
5	CTCF	chr15:78207940-78208090	GM12868	blood:	n/a	n/a
6	CTCF	chr15:78207920-78208070	MCF-7	breast:	n/a	n/a
7	CTCF	chr15:78208000-78208150	HEK293	kidney:	n/a	n/a
8	CTCF	chr15:78207980-78208130	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr15:78207991-78208120	MCF-7	breast:	n/a	n/a
10	CTCF	chr15:78207940-78208090	HRE	kidney:	n/a	n/a
11	CTCF	chr15:78208020-78208170	GM06990	blood:	n/a	n/a
12	CTCF	chr15:78207999-78208118	MCF-7	breast:	n/a	n/a
13	CTCF	chr15:78207985-78208122	MCF-7	breast:	n/a	n/a
14	CTCF	chr15:78207980-78208130	HepG2	liver:	n/a	n/a
15	POLR2A	chr15:78206878-78208252	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000261244	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11072692	0.87[ASN][1000 genomes]
rs11072693	0.87[ASN][1000 genomes]
rs11072697	0.86[ASN][1000 genomes]
rs11072698	0.86[ASN][1000 genomes]
rs11072699	0.86[ASN][1000 genomes]
rs11072700	0.86[ASN][1000 genomes]
rs11638419	0.87[ASN][1000 genomes]
rs11638589	0.87[ASN][1000 genomes]
rs12904447	0.85[ASN][1000 genomes]
rs12907649	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12907928	0.80[ASN][1000 genomes]
rs12908305	0.87[ASN][1000 genomes]
rs12912453	0.87[ASN][1000 genomes]
rs12913449	0.87[ASN][1000 genomes]
rs12913473	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12915969	0.81[ASN][1000 genomes]
rs28709127	0.85[ASN][1000 genomes]
rs4514642	0.81[ASN][1000 genomes]
rs4886538	0.88[ASN][1000 genomes]
rs4886539	0.88[ASN][1000 genomes]
rs4886540	0.87[ASN][1000 genomes]
rs4886541	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4886542	0.85[ASN][1000 genomes]
rs4886973	0.81[ASN][1000 genomes]
rs57630695	0.85[ASN][1000 genomes]
rs57708464	0.84[ASN][1000 genomes]
rs58331113	0.87[ASN][1000 genomes]
rs59711627	0.83[ASN][1000 genomes]
rs60003906	0.82[ASN][1000 genomes]
rs60729630	0.85[ASN][1000 genomes]
rs60778112	0.85[ASN][1000 genomes]
rs61520355	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs66955965	0.82[ASN][1000 genomes]
rs67793790	0.87[ASN][1000 genomes]
rs71400903	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv833062	chr15:78035206-78220358	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv904426	chr15:78090630-78264164	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904427	chr15:78129964-78251431	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv976954	chr15:78153346-78255825	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1046383	chr15:78153850-78229596	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv904428	chr15:78156238-78230906	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv904429	chr15:78160362-78251431	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv1823600	chr15:78200594-78219757	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv18540	chr15:78202973-78227329	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58158543	RP11-114H24.7	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78180000-78215600	Weak transcription	Right Atrium	heart
2	chr15:78203200-78220200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:78203200-78227400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:78207400-78208800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:78207600-78208200	Enhancers	Fetal Muscle Leg	muscle
6	chr15:78208000-78208400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:78208000-78208600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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