Variant report

Variant	rs112048789
Chromosome Location	chr5:124395185-124395186
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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:54 , 50 per page) page: 1 2

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	chr5:124389600-124396200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:124390600-124396400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:124390800-124395400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:124391200-124396000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:124391600-124396000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:124391600-124396200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:124391600-124398000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:124391800-124396400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:124392000-124395800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:124392200-124395600	Enhancers	HMEC	breast
13	chr5:124392200-124395600	Enhancers	Osteobl	bone
14	chr5:124392200-124396000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:124392200-124396400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:124392400-124395200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:124392400-124395200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:124392400-124395400	Enhancers	Brain Germinal Matrix	brain
19	chr5:124392400-124395600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:124392400-124395600	Enhancers	Fetal Kidney	kidney
21	chr5:124392400-124396000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:124392600-124395600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:124393000-124396000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:124393200-124395600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:124393600-124395600	Enhancers	NHDF-Ad	bronchial
26	chr5:124393800-124395200	Enhancers	Brain Angular Gyrus	brain
27	chr5:124393800-124395800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:124393800-124395800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr5:124393800-124396000	Enhancers	Fetal Stomach	stomach
30	chr5:124394000-124395200	Enhancers	NHLF	lung
31	chr5:124394000-124395600	Enhancers	Hela-S3	cervix
32	chr5:124394200-124395200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr5:124394200-124395200	Enhancers	Fetal Intestine Large	intestine
34	chr5:124394200-124395600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:124394200-124395800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr5:124394200-124395800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:124394200-124395800	Enhancers	NH-A	brain
38	chr5:124394200-124400400	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:124394400-124396000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:124394400-124400200	Weak transcription	Fetal Brain Male	brain
41	chr5:124394600-124395200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:124394600-124395200	Enhancers	Brain Anterior Caudate	brain
43	chr5:124394600-124395600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:124394600-124395800	Enhancers	Fetal Lung	lung
45	chr5:124394600-124399800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:124394800-124395600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:124394800-124395800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:124395000-124395200	Enhancers	Fetal Muscle Leg	muscle
49	chr5:124395000-124395200	Enhancers	Fetal Thymus	thymus
50	chr5:124395000-124395200	Enhancers	Left Ventricle	heart

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