Variant report

Variant	rs28550347
Chromosome Location	chr8:58946650-58946651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58943502..58945075-chr8:58945226..58947971,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169122	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10089259	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504246	0.80[ASN][1000 genomes]
rs1106314	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1108188	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11780747	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997733	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13252750	0.80[ASN][1000 genomes]
rs34915140	0.80[ASN][1000 genomes]
rs35124619	0.80[ASN][1000 genomes]
rs35856042	0.81[ASN][1000 genomes]
rs56128341	0.80[ASN][1000 genomes]
rs58124183	0.80[ASN][1000 genomes]
rs61126058	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67784763	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68143639	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989512	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6999606	0.80[ASN][1000 genomes]
rs7006812	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621433	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813490	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7828423	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832353	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7842966	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7845456	0.86[ASN][1000 genomes]
rs9297984	0.80[ASN][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	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58927000-58948000	Weak transcription	Fetal Brain Male	brain
2	chr8:58935000-58948600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:58935000-58950200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
5	chr8:58943200-58948200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:58943200-58950400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:58943800-58949600	Weak transcription	Placenta	Placenta
8	chr8:58943800-58950000	Weak transcription	Adipose Nuclei	Adipose
9	chr8:58943800-58951200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:58944000-58949400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr8:58944000-58950200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:58944000-58950200	Weak transcription	Brain Substantia Nigra	brain
13	chr8:58944000-58950200	Weak transcription	HSMMtube	muscle
14	chr8:58944000-58950400	Weak transcription	Brain Anterior Caudate	brain
15	chr8:58944000-58950400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:58944000-58951400	Weak transcription	NHLF	lung
17	chr8:58944000-58951600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:58944200-58950000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:58944200-58950000	Weak transcription	NHDF-Ad	bronchial
20	chr8:58944400-58947200	Strong transcription	Fetal Brain Female	brain
21	chr8:58944400-58948800	Strong transcription	Fetal Stomach	stomach
22	chr8:58944400-58949000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:58944400-58949400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:58944600-58947600	Strong transcription	HSMM	muscle
25	chr8:58944600-58948400	Weak transcription	Ovary	ovary
26	chr8:58944600-58954400	Weak transcription	Fetal Intestine Small	intestine
27	chr8:58944600-58963000	Weak transcription	Stomach Mucosa	stomach
28	chr8:58944800-58962800	Weak transcription	Gastric	stomach
29	chr8:58945000-58947000	Enhancers	Spleen	Spleen
30	chr8:58945200-58947600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:58945200-58948400	Strong transcription	Fetal Lung	lung
32	chr8:58945400-58952200	Weak transcription	HepG2	liver
33	chr8:58945400-58957800	Weak transcription	Pancreas	Pancrea
34	chr8:58945600-58951600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:58945800-58947000	Strong transcription	Fetal Intestine Large	intestine
36	chr8:58945800-58950000	Weak transcription	Brain Germinal Matrix	brain
37	chr8:58946000-58947200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:58946000-58960000	Weak transcription	Fetal Kidney	kidney
39	chr8:58946200-58949000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr8:58946200-58950200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:58946400-58946800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:58946400-58947000	Enhancers	Brain Hippocampus Middle	brain
43	chr8:58946400-58947200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:58946400-58947200	Strong transcription	Liver	Liver
45	chr8:58946400-58947200	Genic enhancers	Fetal Muscle Leg	muscle
46	chr8:58946400-58947200	Enhancers	Left Ventricle	heart
47	chr8:58946400-58947200	Enhancers	Lung	lung
48	chr8:58946400-58947200	Enhancers	Psoas Muscle	Psoas
49	chr8:58946400-58947200	Enhancers	Right Ventricle	heart
50	chr8:58946400-58947200	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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