Variant report

Variant	rs13361383
Chromosome Location	chr5:167243226-167243227
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	chr5:167242851-167244241	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr5:167242930-167243638	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr5:167242929-167243666	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr5:167242832-167244301	MCF10A-Er-Src	breast:	n/a	chr5:167243052-167243061
5	FOS	chr5:167242919-167243666	MCF10A-Er-Src	breast:	n/a	chr5:167243037-167243049 chr5:167243114-167243122 chr5:167243113-167243123 chr5:167243113-167243123 chr5:167243113-167243123 chr5:167243113-167243123
6	STAT3	chr5:167242633-167244213	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr5:167242935-167243708	MCF10A-Er-Src	breast:	n/a	chr5:167243052-167243061
8	FOS	chr5:167242832-167244279	MCF10A-Er-Src	breast:	n/a	chr5:167243037-167243049 chr5:167243114-167243122 chr5:167243113-167243123 chr5:167243113-167243123 chr5:167243113-167243123 chr5:167243113-167243123
9	STAT3	chr5:167242823-167244283	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr5:167241799-167244372	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr5:167242833-167244264	MCF10A-Er-Src	breast:	n/a	chr5:167243037-167243049 chr5:167243114-167243122 chr5:167243113-167243123 chr5:167243113-167243123 chr5:167243113-167243123 chr5:167243113-167243123
12	FOS	chr5:167242903-167244261	MCF10A-Er-Src	breast:	n/a	chr5:167243037-167243049 chr5:167243114-167243122 chr5:167243113-167243123 chr5:167243113-167243123 chr5:167243113-167243123 chr5:167243113-167243123

Variant related genes	Relation type
TENM2	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10056158	1.00[EUR][1000 genomes]
rs10063203	1.00[EUR][1000 genomes]
rs13354770	1.00[EUR][1000 genomes]
rs13361271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13361323	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13361359	1.00[EUR][1000 genomes]
rs13435968	0.97[AFR][1000 genomes]
rs28590401	1.00[EUR][1000 genomes]
rs58820246	1.00[EUR][1000 genomes]
rs59859592	1.00[EUR][1000 genomes]
rs60519985	1.00[EUR][1000 genomes]
rs73370917	1.00[EUR][1000 genomes]
rs73370924	1.00[EUR][1000 genomes]
rs7704178	1.00[EUR][1000 genomes]
rs7723890	1.00[EUR][1000 genomes]
rs7737681	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167238400-167246600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:167239200-167243600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:167239600-167243400	Enhancers	HMEC	breast
4	chr5:167239600-167244200	Enhancers	HSMM	muscle
5	chr5:167240000-167250600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:167240600-167246000	Weak transcription	Fetal Thymus	thymus
7	chr5:167241000-167243600	Enhancers	NH-A	brain
8	chr5:167241000-167246000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:167241200-167244000	Enhancers	HSMMtube	muscle
10	chr5:167241800-167243400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:167242000-167243400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr5:167242000-167245000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:167242000-167245000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:167242400-167243600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:167242400-167244000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:167242400-167244000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:167242400-167244000	Enhancers	Osteobl	bone
18	chr5:167242600-167243600	Weak transcription	Fetal Lung	lung
19	chr5:167242600-167244000	Flanking Active TSS	NHEK	skin
20	chr5:167242600-167244200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:167242600-167244600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:167242600-167246600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:167242600-167247400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:167243000-167243600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:167243000-167243600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:167243000-167243800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:167243000-167244200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:167243000-167244200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:167243000-167244200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr5:167243200-167243400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr5:167243200-167243400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:167243200-167244200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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