Variant report

Variant	rs58895107
Chromosome Location	chr5:124400236-124400237
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:9)

rs_ID	r²[population]
rs4274974	0.90[AMR][1000 genomes]
rs57626669	0.81[AMR][1000 genomes]
rs58315443	0.90[AMR][1000 genomes]
rs60274458	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60664342	0.81[AMR][1000 genomes]
rs73301682	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301689	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308764	0.90[AMR][1000 genomes]
rs7733073	0.81[AMR][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	chr5:124394200-124400400	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:124395200-124400400	Weak transcription	Brain Anterior Caudate	brain
3	chr5:124395200-124400400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:124395200-124400600	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:124395200-124401600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:124395600-124400800	Weak transcription	Fetal Kidney	kidney
7	chr5:124395600-124401000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:124395800-124400400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:124395800-124400400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:124395800-124400600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:124395800-124402400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:124396000-124400400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:124396000-124400400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:124396000-124400600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:124396000-124400600	Weak transcription	Fetal Stomach	stomach
16	chr5:124396200-124400800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:124396400-124400400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:124396400-124400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:124396400-124405000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:124398200-124400400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:124399000-124401600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:124399200-124401600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:124399200-124401800	Enhancers	Brain Germinal Matrix	brain
24	chr5:124399400-124401600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:124399800-124401000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:124399800-124401800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:124400000-124400400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:124400000-124400800	Enhancers	Osteobl	bone
29	chr5:124400000-124401600	Enhancers	Brain Substantia Nigra	brain
30	chr5:124400000-124402200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:124400200-124401000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:124400200-124401200	Enhancers	NH-A	brain
33	chr5:124400200-124401600	Enhancers	Brain Cingulate Gyrus	brain
34	chr5:124400200-124401800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:124400200-124401800	Enhancers	Fetal Brain Male	brain
36	chr5:124400200-124402200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:124400200-124402200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:124400200-124402200	Enhancers	Fetal Lung	lung

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