Variant report

Variant	rs58828084
Chromosome Location	chr8:48398137-48398138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10107926	0.89[EUR][1000 genomes]
rs10481296	0.89[EUR][1000 genomes]
rs12216833	0.94[EUR][1000 genomes]
rs1552667	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16927307	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55841214	0.94[EUR][1000 genomes]
rs55918561	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56107210	1.00[EUR][1000 genomes]
rs56391539	0.94[EUR][1000 genomes]
rs6472453	0.81[EUR][1000 genomes]
rs6989958	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6992139	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7011833	0.85[EUR][1000 genomes]
rs72644585	0.87[EUR][1000 genomes]
rs72644587	0.82[EUR][1000 genomes]
rs72644597	0.94[EUR][1000 genomes]
rs72644602	0.92[EUR][1000 genomes]
rs72646317	0.86[EUR][1000 genomes]
rs72646321	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72646324	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72646330	0.87[EUR][1000 genomes]
rs72646348	0.98[EUR][1000 genomes]
rs72646350	0.98[EUR][1000 genomes]
rs7822371	0.89[EUR][1000 genomes]
rs7829543	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7834901	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7839055	0.89[EUR][1000 genomes]
rs9643810	0.82[EUR][1000 genomes]
rs9650144	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak 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	20 gene(s)	inside rSNPs	diseases
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS 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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:48391200-48399000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:48392200-48398400	Weak transcription	Brain Substantia Nigra	brain
4	chr8:48392200-48403000	Weak transcription	Brain Angular Gyrus	brain
5	chr8:48392400-48398600	Weak transcription	Right Ventricle	heart
6	chr8:48392600-48402000	Weak transcription	HepG2	liver
7	chr8:48392600-48402400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:48393400-48398800	Weak transcription	K562	blood
9	chr8:48393400-48400200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:48393400-48410400	Weak transcription	Ovary	ovary
11	chr8:48393600-48398600	Weak transcription	Fetal Heart	heart
12	chr8:48393600-48399000	Weak transcription	HMEC	breast
13	chr8:48393800-48398200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:48393800-48398200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:48393800-48398400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:48393800-48398800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:48393800-48400800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:48394200-48419800	Weak transcription	Pancreas	Pancrea
19	chr8:48396000-48398800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:48396200-48399000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:48396200-48399600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:48396400-48398200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr8:48396400-48398400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:48396600-48398200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:48396600-48398400	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr8:48396600-48398600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr8:48396800-48398200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:48396800-48398200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr8:48396800-48398200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:48396800-48398200	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr8:48396800-48398400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:48396800-48398400	ZNF genes & repeats	Fetal Stomach	stomach
33	chr8:48396800-48398600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:48396800-48398600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr8:48396800-48398600	ZNF genes & repeats	Fetal Intestine Large	intestine
36	chr8:48396800-48398800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:48396800-48399000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:48397000-48398600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:48397200-48399000	Weak transcription	Fetal Kidney	kidney
40	chr8:48397400-48398400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:48397600-48398200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:48397600-48398400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:48397600-48399200	Weak transcription	GM12878-XiMat	blood
44	chr8:48397600-48399400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:48397600-48419400	Weak transcription	Primary T cells from cord blood	blood
46	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
47	chr8:48397800-48398800	Strong transcription	Fetal Lung	lung
48	chr8:48397800-48399200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:48397800-48400800	Weak transcription	HSMM	muscle
50	chr8:48397800-48401600	Weak transcription	Brain Hippocampus Middle	brain

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