Variant report

Variant	rs58483486
Chromosome Location	chr8:110595062-110595063
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110585248..110587621-chr8:110594854..110596894,3	MCF-7	breast:
2	chr8:110551964..110555070-chr8:110593692..110597426,3	K562	blood:
3	chr8:110593893..110595634-chr8:110631099..110633748,2	K562	blood:
4	chr8:110588060..110591053-chr8:110594927..110598515,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147654	Chromatin interaction

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

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

rs_ID	r²[population]
rs58512228	1.00[AMR][1000 genomes]
rs58806541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60859789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553800-110613000	Weak transcription	NHLF	lung
2	chr8:110583800-110601600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:110586000-110598800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:110587800-110605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:110588000-110600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:110588200-110598200	Weak transcription	Ovary	ovary
7	chr8:110588200-110601600	Weak transcription	Left Ventricle	heart
8	chr8:110588600-110596600	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:110589200-110598600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:110589800-110595200	Weak transcription	Psoas Muscle	Psoas
11	chr8:110589800-110598000	Weak transcription	Brain Substantia Nigra	brain
12	chr8:110589800-110598200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:110589800-110601600	Weak transcription	Right Atrium	heart
14	chr8:110590000-110597800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:110590000-110605600	Weak transcription	K562	blood
16	chr8:110590200-110654800	Weak transcription	Lung	lung
17	chr8:110590800-110597800	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:110591200-110601600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:110591600-110595200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:110591600-110596000	Weak transcription	HepG2	liver
21	chr8:110591600-110597000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:110591600-110597600	Weak transcription	Colonic Mucosa	Colon
23	chr8:110591600-110598400	Weak transcription	Right Ventricle	heart
24	chr8:110591600-110599400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:110591600-110601600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:110591600-110609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:110591800-110598200	Weak transcription	Fetal Stomach	stomach
28	chr8:110592000-110601400	Weak transcription	Brain Angular Gyrus	brain
29	chr8:110592200-110595800	Genic enhancers	Liver	Liver
30	chr8:110592200-110596800	Weak transcription	Fetal Intestine Large	intestine
31	chr8:110592200-110597400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:110592200-110601600	Weak transcription	NHEK	skin
33	chr8:110592200-110604600	Weak transcription	Gastric	stomach
34	chr8:110592400-110596600	Weak transcription	Fetal Brain Female	brain
35	chr8:110592400-110597600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:110592400-110601800	Weak transcription	Brain Germinal Matrix	brain
37	chr8:110592800-110597000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:110593000-110595800	Weak transcription	Fetal Intestine Small	intestine
39	chr8:110593200-110596200	Weak transcription	Small Intestine	intestine
40	chr8:110593200-110598600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:110593400-110595400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:110593400-110597600	Weak transcription	Esophagus	oesophagus
43	chr8:110593600-110596000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:110593600-110596200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:110593600-110597000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:110593600-110597000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:110593600-110601400	Weak transcription	HMEC	breast
48	chr8:110593800-110595200	Weak transcription	HSMMtube	muscle
49	chr8:110593800-110596400	Weak transcription	A549	lung
50	chr8:110594000-110596600	Weak transcription	Stomach Mucosa	stomach

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