Variant report

Variant	rs57599317
Chromosome Location	chr8:59003946-59003947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10504240	0.90[EUR][1000 genomes]
rs1507080	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1507081	0.95[EUR][1000 genomes]
rs16923044	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923053	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16923066	0.84[EUR][1000 genomes]
rs17240058	0.95[EUR][1000 genomes]
rs56084388	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56171966	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56780714	0.95[EUR][1000 genomes]
rs59496630	0.84[EUR][1000 genomes]
rs6471683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003401	0.82[ASN][1000 genomes]
rs72660384	0.95[EUR][1000 genomes]
rs72660388	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72660390	0.95[EUR][1000 genomes]
rs72660396	1.00[ASN][1000 genomes]
rs72660399	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72660400	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72660402	0.95[EUR][1000 genomes]
rs7840512	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58984600-59004200	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:58987400-59010800	Weak transcription	Psoas Muscle	Psoas
3	chr8:58989200-59014400	Weak transcription	Aorta	Aorta
4	chr8:58990400-59004400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:58992000-59004800	Weak transcription	HSMMtube	muscle
6	chr8:58992000-59007000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:58992200-59010800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:59000000-59010200	Weak transcription	HSMM	muscle
9	chr8:59000000-59010200	Weak transcription	NHDF-Ad	bronchial
10	chr8:59000000-59010800	Weak transcription	Fetal Lung	lung
11	chr8:59000200-59005400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:59000200-59010400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:59000200-59010600	Weak transcription	Right Atrium	heart
14	chr8:59000400-59004000	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:59001200-59004600	Enhancers	Brain Germinal Matrix	brain
16	chr8:59002800-59004600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:59003000-59004400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:59003000-59004600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:59003200-59004400	Enhancers	Fetal Heart	heart
20	chr8:59003400-59004400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:59003400-59004600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:59003400-59004800	Enhancers	Fetal Brain Female	brain
23	chr8:59003600-59004000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:59003600-59004000	Enhancers	Colon Smooth Muscle	Colon
25	chr8:59003600-59004000	Enhancers	Right Ventricle	heart
26	chr8:59003600-59004200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:59003600-59004200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:59003600-59004200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:59003600-59004200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:59003600-59004200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:59003600-59004400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:59003600-59004400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:59003600-59004400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:59003600-59004400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr8:59003600-59004400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:59003600-59004600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr8:59003600-59004600	Enhancers	Fetal Kidney	kidney
38	chr8:59003800-59004000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:59003800-59004000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:59003800-59004200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:59003800-59004200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:59003800-59004200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:59003800-59004200	Enhancers	Left Ventricle	heart
44	chr8:59003800-59004400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr8:59003800-59004400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr8:59003800-59004400	Enhancers	Fetal Stomach	stomach
47	chr8:59003800-59004600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:59003800-59005000	Enhancers	Fetal Brain Male	brain

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