Variant report

Variant	rs17240058
Chromosome Location	chr8:58962742-58962743
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	chr8:58959136..58960793-chr8:58960961..58963378,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10504240	0.85[EUR][1000 genomes]
rs1507080	0.95[EUR][1000 genomes]
rs1507081	0.90[EUR][1000 genomes]
rs16923044	0.95[EUR][1000 genomes]
rs16923053	0.95[EUR][1000 genomes]
rs16923066	0.89[EUR][1000 genomes]
rs56084388	0.95[EUR][1000 genomes]
rs56171966	0.95[EUR][1000 genomes]
rs56780714	0.90[EUR][1000 genomes]
rs57599317	0.95[EUR][1000 genomes]
rs59496630	0.89[EUR][1000 genomes]
rs6471683	0.95[EUR][1000 genomes]
rs72660377	0.83[AMR][1000 genomes]
rs72660384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72660388	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72660390	0.90[EUR][1000 genomes]
rs72660396	1.00[AMR][1000 genomes]
rs72660399	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72660400	0.95[EUR][1000 genomes]
rs72660402	0.90[EUR][1000 genomes]
rs7840512	0.90[EUR][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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58944600-58963000	Weak transcription	Stomach Mucosa	stomach
3	chr8:58944800-58962800	Weak transcription	Gastric	stomach
4	chr8:58949400-58966800	Weak transcription	Liver	Liver
5	chr8:58951800-58963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:58951800-58963200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:58952000-58964200	Weak transcription	Osteobl	bone
8	chr8:58952200-58962800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
10	chr8:58952800-58979600	Weak transcription	HSMMtube	muscle
11	chr8:58954200-58962800	Weak transcription	Lung	lung
12	chr8:58954400-58962800	Weak transcription	Right Ventricle	heart
13	chr8:58954400-58973200	Weak transcription	Psoas Muscle	Psoas
14	chr8:58955000-58963000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:58955200-58974400	Weak transcription	Fetal Brain Male	brain
16	chr8:58956000-58963000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:58956000-58969400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:58958000-58964000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:58958000-58969400	Weak transcription	HSMM	muscle
20	chr8:58958000-58979000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:58958200-58968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:58958800-58962800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:58959600-58964600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:58960000-58963800	Enhancers	Fetal Kidney	kidney
25	chr8:58960400-58963200	Enhancers	Colon Smooth Muscle	Colon
26	chr8:58960600-58963000	Enhancers	Fetal Stomach	stomach
27	chr8:58960800-58963000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:58960800-58963400	Weak transcription	NHLF	lung
29	chr8:58960800-58963800	Weak transcription	HepG2	liver
30	chr8:58960800-58964000	Enhancers	Fetal Heart	heart
31	chr8:58960800-58964200	Enhancers	Ovary	ovary
32	chr8:58961000-58962800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:58961200-58962800	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:58961200-58963000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:58961200-58963000	Weak transcription	Placenta	Placenta
36	chr8:58961200-58963000	Weak transcription	Left Ventricle	heart
37	chr8:58961200-58963000	Weak transcription	Right Atrium	heart
38	chr8:58961200-58964000	Enhancers	Brain Anterior Caudate	brain
39	chr8:58961400-58962800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:58961400-58963000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:58961400-58963000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:58961400-58963200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:58961400-58963200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:58961400-58963400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:58961400-58969400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:58961600-58962800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:58961600-58962800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:58961600-58962800	Weak transcription	Brain Germinal Matrix	brain
49	chr8:58961600-58963600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:58961800-58963200	Weak transcription	Brain Hippocampus Middle	brain

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