Variant report

Variant	rs71594399
Chromosome Location	chr5:124396300-124396301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11957892	0.81[EUR][1000 genomes]
rs13156954	0.94[EUR][1000 genomes]
rs13166517	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13167636	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13171701	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13181069	0.92[EUR][1000 genomes]
rs13185999	0.94[EUR][1000 genomes]
rs34285348	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34881137	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34886855	0.94[EUR][1000 genomes]
rs35248489	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35728314	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35993487	0.92[EUR][1000 genomes]
rs35996109	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36056892	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36109016	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4342331	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4836143	0.92[EUR][1000 genomes]
rs57154044	0.94[EUR][1000 genomes]
rs58039939	0.92[EUR][1000 genomes]
rs6867459	0.82[AMR][1000 genomes]
rs71594396	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9686495	0.83[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124388400-124396400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr5:124388400-124396400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:124390600-124396400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:124391600-124398000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:124391800-124396400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:124392200-124396400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:124394200-124400400	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:124394400-124400200	Weak transcription	Fetal Brain Male	brain
9	chr5:124394600-124399800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:124395000-124396400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:124395000-124399400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:124395200-124400000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:124395200-124400400	Weak transcription	Brain Anterior Caudate	brain
14	chr5:124395200-124400400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:124395200-124400600	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:124395200-124401600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:124395400-124399200	Weak transcription	Brain Germinal Matrix	brain
18	chr5:124395600-124397000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:124395600-124399800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:124395600-124400000	Weak transcription	Osteobl	bone
21	chr5:124395600-124400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:124395600-124400800	Weak transcription	Fetal Kidney	kidney
23	chr5:124395600-124401000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:124395800-124400200	Weak transcription	Fetal Lung	lung
25	chr5:124395800-124400200	Weak transcription	NH-A	brain
26	chr5:124395800-124400400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:124395800-124400400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:124395800-124400600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:124395800-124402400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:124396000-124399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:124396000-124399200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:124396000-124400200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:124396000-124400400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:124396000-124400400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:124396000-124400600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:124396000-124400600	Weak transcription	Fetal Stomach	stomach
37	chr5:124396200-124400200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:124396200-124400800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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