Variant report

Variant	rs58358774
Chromosome Location	chr8:121720820-121720821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10283394	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12545570	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12547868	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12679633	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4478618	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57592694	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58755659	0.82[ASN][1000 genomes]
rs73323165	0.90[EUR][1000 genomes]
rs73706703	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73706728	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73706735	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73706739	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73708633	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73710008	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9297626	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121711600-121722800	Weak transcription	Aorta	Aorta
2	chr8:121712800-121724400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr8:121714800-121729400	Weak transcription	Right Atrium	heart
4	chr8:121715000-121728200	Weak transcription	Psoas Muscle	Psoas
5	chr8:121716200-121726200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:121716200-121726200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:121716400-121722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:121716800-121722200	Weak transcription	Placenta	Placenta
9	chr8:121719400-121722600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr8:121719400-121736600	Weak transcription	HSMM	muscle
11	chr8:121719600-121722200	Weak transcription	Left Ventricle	heart
12	chr8:121719600-121722800	Weak transcription	Fetal Thymus	thymus
13	chr8:121719600-121724000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr8:121719600-121724400	Enhancers	Primary T cells from cord blood	blood
15	chr8:121719600-121736400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:121719600-121739000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:121719800-121721000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:121719800-121721200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:121719800-121721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:121719800-121722200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:121719800-121729400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:121720000-121727000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:121720000-121729400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:121720200-121721000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr8:121720200-121721200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:121720200-121721200	Weak transcription	HUVEC	blood vessel
27	chr8:121720200-121722000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:121720200-121722600	Weak transcription	Liver	Liver
29	chr8:121720200-121723200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:121720200-121723600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:121720200-121726800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:121720400-121721400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:121720800-121723800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:121720800-121724200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr8:121720800-121724400	Enhancers	HepG2	liver

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