Variant report

Variant	rs1147872
Chromosome Location	chr10:44886258-44886259
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	CEBPB	chr10:44886019-44886366	IMR90	lung:	n/a	chr10:44886190-44886201
2	CEBPB	chr10:44886067-44886325	K562	blood:	n/a	chr10:44886190-44886201
3	FOS	chr10:44886062-44886349	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr10:44886047-44886366	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr10:44886057-44886288	HepG2	liver:	n/a	chr10:44886190-44886201
6	HNF4A	chr10:44886039-44886353	HepG2	liver:	n/a	n/a
7	TEAD4	chr10:44885963-44886390	HepG2	liver:	n/a	n/a
8	EBF1	chr10:44886197-44886342	GM12878	blood:	n/a	chr10:44886276-44886287
9	STAT3	chr10:44886130-44886273	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr10:44886141-44886336	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr10:44886070-44886276	HepG2	liver:	n/a	chr10:44886190-44886201
12	CEBPB	chr10:44886015-44886389	HepG2	liver:	n/a	chr10:44886190-44886201
13	CEBPB	chr10:44886029-44886357	A549	lung:	n/a	chr10:44886190-44886201

Variant related genes	Relation type
CXCL12	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11239017	0.89[EUR][1000 genomes]
rs11239018	0.89[EUR][1000 genomes]
rs1144471	0.90[EUR][1000 genomes]
rs266089	0.88[EUR][1000 genomes]
rs266091	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs266094	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs266097	0.89[EUR][1000 genomes]
rs266098	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2839685	0.82[ASN][1000 genomes]
rs2839688	0.92[EUR][1000 genomes]
rs2839693	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2861440	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524280	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054649	chr10:44848921-44889713	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv895091	chr10:44875040-44888130	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv895097	chr10:44876586-44888130	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44884200-44886800	Enhancers	Liver	Liver
2	chr10:44884800-44886400	Enhancers	Fetal Muscle Trunk	muscle
3	chr10:44885600-44886400	Enhancers	Lung	lung
4	chr10:44885800-44886600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:44885800-44886600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:44885800-44886600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr10:44885800-44886600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr10:44885800-44886600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:44885800-44886600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr10:44885800-44886600	Enhancers	Osteobl	bone
11	chr10:44885800-44886800	Enhancers	HepG2	liver
12	chr10:44886000-44886400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:44886000-44886600	Enhancers	Adipose Nuclei	Adipose
14	chr10:44886000-44886600	Enhancers	Spleen	Spleen
15	chr10:44886000-44886600	Enhancers	NHDF-Ad	bronchial
16	chr10:44886200-44886400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:44886200-44886400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr10:44886200-44886600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr10:44886200-44886600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:44886200-44886600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:44886200-44886600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:44886200-44886600	Enhancers	Pancreas	Pancrea
23	chr10:44886200-44888400	Weak transcription	Fetal Lung	lung

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