Variant report

Variant	rs17345521
Chromosome Location	chr5:106701494-106701495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17345424	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17345752	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17403761	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17411832	0.95[EUR][1000 genomes]
rs2859	0.95[EUR][1000 genomes]
rs56890592	0.88[AMR][1000 genomes]
rs66609347	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6882277	0.92[EUR][1000 genomes]
rs6884043	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7706841	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv2760982	chr5:106680849-106702473	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106694800-106702400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:106698000-106706000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:106698400-106706000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:106699000-106702000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr5:106700400-106702000	Enhancers	Primary T cells from cord blood	blood
6	chr5:106700600-106702000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:106700600-106720000	Weak transcription	Aorta	Aorta
8	chr5:106700800-106701800	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:106700800-106702000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:106700800-106702000	Flanking Active TSS	GM12878-XiMat	blood
11	chr5:106700800-106704600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:106700800-106704800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:106701000-106701800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:106701000-106702000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:106701000-106704600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:106701000-106704800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:106701200-106701600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:106701200-106701600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr5:106701200-106701600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr5:106701200-106701600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:106701200-106701600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr5:106701200-106701600	Enhancers	HSMM	muscle
23	chr5:106701200-106702000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:106701200-106702000	Flanking Active TSS	A549	lung
25	chr5:106701200-106702000	Enhancers	NH-A	brain
26	chr5:106701200-106702200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:106701200-106702200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:106701200-106702200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:106701200-106704600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:106701200-106705800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:106701400-106701600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:106701400-106701600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:106701400-106701600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr5:106701400-106702200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:106701400-106704600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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