Variant report

Variant	rs4511467
Chromosome Location	chr15:58439159-58439160
allele	C/G
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	chr15:58438815-58439769	U87	brain:	n/a	n/a
2	MAX	chr15:58439048-58439185	A549	lung:	n/a	n/a
3	FOS	chr15:58439051-58439249	MCF10A-Er-Src	breast:	n/a	chr15:58439151-58439159 chr15:58439090-58439100 chr15:58439090-58439100 chr15:58439147-58439158 chr15:58439150-58439160
4	POLR2A	chr15:58438872-58439393	HL-60	blood:	n/a	n/a
5	STAT3	chr15:58438984-58439562	MCF10A-Er-Src	breast:	n/a	chr15:58439420-58439431
6	FOS	chr15:58439039-58439239	MCF10A-Er-Src	breast:	n/a	chr15:58439151-58439159 chr15:58439090-58439100 chr15:58439090-58439100 chr15:58439147-58439158 chr15:58439150-58439160
7	POLR2A	chr15:58438781-58439769	U87	brain:	n/a	n/a
8	ESR1	chr15:58438937-58439901	ECC-1	luminal epithelium:	n/a	chr15:58439054-58439069
9	KAP1	chr15:58438978-58440015	U2OS	brain:	n/a	chr15:58439002-58439010
10	MAX	chr15:58438964-58439190	K562	blood:	n/a	n/a
11	MAX	chr15:58438905-58439348	ECC-1	luminal epithelium:	n/a	n/a
12	FOS	chr15:58439004-58439586	MCF10A-Er-Src	breast:	n/a	chr15:58439151-58439159 chr15:58439090-58439100 chr15:58439090-58439100 chr15:58439147-58439158 chr15:58439150-58439160
13	MAX	chr15:58438886-58439344	HCT-116	colon:	n/a	n/a
14	MYC	chr15:58438919-58439724	NB4	blood:	n/a	n/a
15	MYC	chr15:58439033-58439291	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr15:58438894-58439267	HepG2	liver:	n/a	n/a
17	STAT3	chr15:58439002-58439562	MCF10A-Er-Src	breast:	n/a	chr15:58439420-58439431
18	STAT3	chr15:58439003-58439187	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr15:58438929-58439598	MCF10A-Er-Src	breast:	n/a	chr15:58439420-58439431
20	ESR1	chr15:58438907-58439370	ECC-1	luminal epithelium:	n/a	chr15:58439054-58439069
21	POLR2A	chr15:58438724-58439953	U87	brain:	n/a	n/a
22	ESR1	chr15:58439106-58439457	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr15:58438989-58439674	HL-60	blood:	n/a	n/a
24	MAX	chr15:58438894-58439207	K562	blood:	n/a	n/a
25	POLR2A	chr15:58439062-58439365	K562	blood:	n/a	n/a
26	MYC	chr15:58438975-58439204	MCF10A-Er-Src	breast:	n/a	n/a
27	MAX	chr15:58438886-58439852	NB4	blood:	n/a	n/a
28	ESR1	chr15:58438884-58439912	ECC-1	luminal epithelium:	n/a	chr15:58439054-58439069
29	MAX	chr15:58438892-58439447	ECC-1	luminal epithelium:	n/a	n/a
30	SPI1	chr15:58438881-58439758	HL-60	blood:	n/a	chr15:58439397-58439406 chr15:58439394-58439407 chr15:58439738-58439751 chr15:58439395-58439408
31	POLR2A	chr15:58438730-58439796	U87	brain:	n/a	n/a
32	FOS	chr15:58438983-58439533	MCF10A-Er-Src	breast:	n/a	chr15:58439151-58439159 chr15:58439090-58439100 chr15:58439090-58439100 chr15:58439147-58439158 chr15:58439150-58439160

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58435593..58437807-chr15:58437844..58439525,2	K562	blood:

Variant related genes	Relation type
ENSG00000259600	TF binding region
ENSG00000259626	TF binding region
ENSG00000259651	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10518964	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12050800	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12437895	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440410	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12440784	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12440934	1.00[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs1554203	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16939816	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17571313	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2642624	0.96[EUR][1000 genomes]
rs2704203	0.96[EUR][1000 genomes]
rs34034101	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34246303	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3959686	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4774289	0.96[EUR][1000 genomes]
rs57139208	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60179196	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60401526	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60802802	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7180019	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73424166	0.96[EUR][1000 genomes]
rs73426124	0.96[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	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv457172	chr15:58417895-58457507	Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv569597	chr15:58417895-58457507	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4511467	LOC650392	trans	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58433400-58441800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:58433800-58442400	Weak transcription	Aorta	Aorta
3	chr15:58436400-58439400	Active TSS	Primary B cells from cord blood	blood
4	chr15:58437800-58439400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr15:58438200-58441800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:58438400-58440000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:58438600-58441600	Enhancers	Fetal Kidney	kidney
8	chr15:58438800-58439200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:58438800-58439200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:58438800-58439400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr15:58438800-58439400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr15:58438800-58439800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:58438800-58440000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr15:58438800-58440000	Enhancers	NHDF-Ad	bronchial
15	chr15:58438800-58441600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:58438800-58441600	Enhancers	Liver	Liver
17	chr15:58439000-58439400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:58439000-58439600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:58439000-58439800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:58439000-58439800	Enhancers	Osteobl	bone

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