Variant report

Variant	rs58569901
Chromosome Location	chr5:145492709-145492710
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10515568	0.83[EUR][1000 genomes]
rs11540216	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11952903	0.83[EUR][1000 genomes]
rs11959720	0.83[EUR][1000 genomes]
rs17104247	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104250	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104264	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104266	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104268	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104276	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104293	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17104347	0.83[EUR][1000 genomes]
rs17104362	0.83[EUR][1000 genomes]
rs17104371	0.83[EUR][1000 genomes]
rs17104395	0.80[EUR][1000 genomes]
rs4631229	0.83[EUR][1000 genomes]
rs56864252	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57466173	0.83[EUR][1000 genomes]
rs57722184	0.83[EUR][1000 genomes]
rs58922378	0.83[EUR][1000 genomes]
rs61455974	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66507348	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66891285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67350755	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67721586	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67897591	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68040240	0.81[EUR][1000 genomes]
rs6870249	0.83[EUR][1000 genomes]
rs6871866	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6882243	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72806113	0.83[EUR][1000 genomes]
rs72806116	0.83[EUR][1000 genomes]
rs72806136	0.83[EUR][1000 genomes]
rs72806144	0.83[EUR][1000 genomes]
rs72806155	0.83[EUR][1000 genomes]
rs72806173	0.81[EUR][1000 genomes]
rs72806176	0.80[EUR][1000 genomes]
rs72820451	1.00[EUR][1000 genomes]
rs72820464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72822208	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822249	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822263	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822274	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822293	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72822296	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72824110	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72824123	0.83[EUR][1000 genomes]
rs72824124	0.83[EUR][1000 genomes]
rs73315720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73317887	0.83[EUR][1000 genomes]
rs73317890	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv1796142	chr5:145484386-145505556	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv1827255	chr5:145484386-145505556	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145475000-145495800	Weak transcription	Brain Substantia Nigra	brain
2	chr5:145478200-145497600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:145478400-145492800	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:145478400-145493400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:145478400-145497600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:145480200-145494000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:145481200-145493800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:145481200-145560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:145481600-145498400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:145482200-145497600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:145482200-145497800	Weak transcription	Brain Germinal Matrix	brain
12	chr5:145482200-145500800	Weak transcription	Aorta	Aorta
13	chr5:145482400-145497800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:145482600-145501200	Weak transcription	Thymus	Thymus
15	chr5:145482800-145492800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:145483000-145493600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:145483000-145497600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:145483200-145493400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:145483400-145492800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:145483400-145498400	Weak transcription	Psoas Muscle	Psoas
21	chr5:145483400-145501200	Weak transcription	Esophagus	oesophagus
22	chr5:145484800-145493200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:145485000-145505400	Weak transcription	Gastric	stomach
24	chr5:145487600-145492800	Weak transcription	GM12878-XiMat	blood
25	chr5:145489400-145493600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:145489600-145497600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:145490200-145493400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:145490400-145497200	Weak transcription	Placenta	Placenta
29	chr5:145490400-145501200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:145490600-145492800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:145490600-145497200	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:145490600-145497800	Weak transcription	Fetal Brain Male	brain
33	chr5:145490600-145501400	Weak transcription	Colonic Mucosa	Colon
34	chr5:145490600-145501800	Weak transcription	NHLF	lung
35	chr5:145490800-145535200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:145491000-145494000	Strong transcription	A549	lung
37	chr5:145491000-145494000	Strong transcription	Hela-S3	cervix
38	chr5:145491000-145496000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:145491000-145509800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:145491000-145510600	Strong transcription	HSMM	muscle
41	chr5:145491000-145517600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:145491000-145518800	Strong transcription	Dnd41	blood
43	chr5:145491000-145542200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:145491000-145551600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr5:145491000-145553800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:145491000-145560200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:145491200-145492800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:145491200-145493400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr5:145491200-145493800	Strong transcription	Brain Anterior Caudate	brain
50	chr5:145491200-145495400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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