Variant report

Variant	rs13166517
Chromosome Location	chr5:124399437-124399438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11950485	0.81[EUR][1000 genomes]
rs13156954	0.97[EUR][1000 genomes]
rs13167636	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13171701	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13181069	0.89[EUR][1000 genomes]
rs13185999	0.92[EUR][1000 genomes]
rs34285348	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34881137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34886855	0.92[EUR][1000 genomes]
rs35248489	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35728314	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35993487	0.89[EUR][1000 genomes]
rs35996109	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36056892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36109016	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4342331	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4836143	0.95[EUR][1000 genomes]
rs57154044	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58039939	0.89[EUR][1000 genomes]
rs60700802	0.81[EUR][1000 genomes]
rs6883243	0.81[EUR][1000 genomes]
rs71594396	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71594399	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9686495	0.85[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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv4984	chr5:124377028-124401500	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1019740	chr5:124394818-124431220	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124394200-124400400	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:124394400-124400200	Weak transcription	Fetal Brain Male	brain
3	chr5:124394600-124399800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:124395200-124400000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:124395200-124400400	Weak transcription	Brain Anterior Caudate	brain
6	chr5:124395200-124400400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:124395200-124400600	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:124395200-124401600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:124395600-124399800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:124395600-124400000	Weak transcription	Osteobl	bone
11	chr5:124395600-124400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:124395600-124400800	Weak transcription	Fetal Kidney	kidney
13	chr5:124395600-124401000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:124395800-124400200	Weak transcription	Fetal Lung	lung
15	chr5:124395800-124400200	Weak transcription	NH-A	brain
16	chr5:124395800-124400400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:124395800-124400400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:124395800-124400600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:124395800-124402400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:124396000-124400200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:124396000-124400400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:124396000-124400400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:124396000-124400600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:124396000-124400600	Weak transcription	Fetal Stomach	stomach
25	chr5:124396200-124400200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:124396200-124400800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:124396400-124400400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:124396400-124400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:124396400-124405000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:124398200-124400400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:124399000-124401600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:124399200-124401600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:124399200-124401800	Enhancers	Brain Germinal Matrix	brain
34	chr5:124399400-124399600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:124399400-124401600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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