Variant report

Variant	rs62356693
Chromosome Location	chr5:58400821-58400822
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10514870	1.00[AFR][1000 genomes]
rs1498603	1.00[AFR][1000 genomes]
rs17776879	1.00[AFR][1000 genomes]
rs7736186	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58395600-58403600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:58395800-58403800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:58396000-58402200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:58396200-58420000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:58397200-58403600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:58398400-58401200	Enhancers	Fetal Heart	heart
7	chr5:58398600-58401400	Enhancers	Colon Smooth Muscle	Colon
8	chr5:58398600-58401800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:58398800-58401000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:58399000-58401400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:58399000-58401400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr5:58399000-58401800	Enhancers	Fetal Thymus	thymus
13	chr5:58399400-58419400	Weak transcription	Fetal Intestine Small	intestine
14	chr5:58399600-58401000	Enhancers	Brain Hippocampus Middle	brain
15	chr5:58399600-58401000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:58399600-58403200	Weak transcription	Hela-S3	cervix
17	chr5:58399600-58405000	Weak transcription	Adipose Nuclei	Adipose
18	chr5:58400000-58401000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:58400000-58401000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:58400000-58401000	Enhancers	Fetal Brain Female	brain
21	chr5:58400000-58401200	Flanking Active TSS	A549	lung
22	chr5:58400200-58401000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:58400200-58401000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:58400200-58401000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:58400200-58401000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:58400200-58401000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:58400200-58401000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:58400200-58401200	Enhancers	Psoas Muscle	Psoas
29	chr5:58400400-58401000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:58400400-58401000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:58400400-58401000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:58400400-58401000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:58400400-58401000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:58400400-58401000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr5:58400400-58401000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr5:58400400-58401000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:58400400-58401000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:58400400-58401000	Enhancers	Brain Angular Gyrus	brain
39	chr5:58400400-58401000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr5:58400400-58401000	Enhancers	Duodenum Mucosa	Duodenum
41	chr5:58400400-58401000	Flanking Active TSS	Fetal Lung	lung
42	chr5:58400400-58401000	Enhancers	Fetal Muscle Leg	muscle
43	chr5:58400400-58401000	Enhancers	Osteobl	bone
44	chr5:58400400-58401200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr5:58400400-58401800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr5:58400600-58401000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:58400600-58401000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:58400600-58401000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr5:58400600-58401000	Enhancers	Aorta	Aorta
50	chr5:58400600-58401000	Enhancers	Brain Anterior Caudate	brain

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