Variant report

Variant	rs591470
Chromosome Location	chr5:106909839-106909840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:106906707..106911009-chr5:107006315..107009316,7	MCF-7	breast:
2	chr5:106907050..106909866-chr5:106911029..106913761,2	K562	blood:
3	chr5:106906689..106910307-chr5:107006069..107011101,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184349	Chromatin interaction

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

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

rs_ID	r²[population]
rs103840	0.92[CEU][hapmap];0.86[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2005103	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4145099	0.86[CHB][hapmap]
rs607976	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs641406	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs685820	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6888055	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7734574	0.86[CHB][hapmap]
rs7737882	0.86[CHB][hapmap]
rs872240	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9328010	0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9686509	0.86[CHB][hapmap]
rs975690	0.86[JPT][hapmap]

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	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106899400-106915600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:106907800-106910800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:106907800-106912800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:106907800-106913400	Weak transcription	Right Ventricle	heart
5	chr5:106907800-106914000	Enhancers	Fetal Heart	heart
6	chr5:106908000-106911600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:106908200-106910400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:106908200-106911800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:106908200-106912600	Weak transcription	Placenta	Placenta
10	chr5:106908200-106913800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:106908200-106916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:106908400-106913800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:106908600-106911400	Weak transcription	HUVEC	blood vessel
14	chr5:106908600-106912000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:106908600-106912000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:106908600-106913200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:106908800-106911000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:106908800-106911000	Weak transcription	GM12878-XiMat	blood
19	chr5:106908800-106911400	Weak transcription	Fetal Kidney	kidney
20	chr5:106908800-106912400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:106908800-106912600	Weak transcription	Fetal Stomach	stomach
22	chr5:106908800-106917000	Weak transcription	HSMM	muscle
23	chr5:106908800-106917600	Enhancers	A549	lung
24	chr5:106909000-106910000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:106909000-106910000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:106909000-106910200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:106909000-106910200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:106909000-106910400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:106909000-106910400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:106909000-106910600	Enhancers	Adipose Nuclei	Adipose
31	chr5:106909000-106911000	Enhancers	Fetal Lung	lung
32	chr5:106909000-106911600	Weak transcription	HMEC	breast
33	chr5:106909000-106911800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:106909000-106911800	Weak transcription	NHEK	skin
35	chr5:106909000-106912000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:106909000-106912200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:106909000-106912200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr5:106909000-106912400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:106909000-106912800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:106909000-106912800	Weak transcription	Right Atrium	heart
41	chr5:106909000-106913200	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:106909000-106913800	Weak transcription	NHDF-Ad	bronchial
43	chr5:106909000-106914000	Weak transcription	Left Ventricle	heart
44	chr5:106909000-106914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:106909000-106917000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:106909200-106910400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr5:106909400-106911400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:106909600-106910400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:106909600-106912000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:106909600-106913800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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