Variant report

Variant	rs56391539
Chromosome Location	chr8:48384702-48384703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10107926	0.87[EUR][1000 genomes]
rs10481296	0.87[EUR][1000 genomes]
rs12216833	0.92[EUR][1000 genomes]
rs1552667	0.87[EUR][1000 genomes]
rs16927307	0.96[EUR][1000 genomes]
rs55841214	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55918561	0.96[EUR][1000 genomes]
rs56107210	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58828084	0.94[EUR][1000 genomes]
rs6989958	0.92[EUR][1000 genomes]
rs6992139	0.92[EUR][1000 genomes]
rs7011833	0.83[EUR][1000 genomes]
rs72644585	0.85[EUR][1000 genomes]
rs72644597	0.92[EUR][1000 genomes]
rs72644602	0.90[EUR][1000 genomes]
rs72646317	0.84[EUR][1000 genomes]
rs72646321	0.92[EUR][1000 genomes]
rs72646324	0.92[EUR][1000 genomes]
rs72646330	0.85[EUR][1000 genomes]
rs72646348	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72646350	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7822371	0.87[EUR][1000 genomes]
rs7829543	0.96[EUR][1000 genomes]
rs7834901	0.87[EUR][1000 genomes]
rs7839055	0.87[EUR][1000 genomes]
rs9643810	0.80[EUR][1000 genomes]
rs9650144	0.81[AMR][1000 genomes];0.92[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48351400-48387000	Weak transcription	Left Ventricle	heart
2	chr8:48353000-48390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:48362800-48387400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:48362800-48387600	Weak transcription	Ovary	ovary
5	chr8:48364600-48386000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:48373400-48390200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:48374600-48388800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:48375000-48392000	Weak transcription	Aorta	Aorta
10	chr8:48376600-48390000	Weak transcription	Primary B cells from cord blood	blood
11	chr8:48377400-48385400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:48377400-48386000	Weak transcription	Esophagus	oesophagus
13	chr8:48377800-48392200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:48378000-48390400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:48378000-48392200	Weak transcription	Fetal Kidney	kidney
16	chr8:48378600-48386400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:48381200-48392000	Weak transcription	HSMMtube	muscle
18	chr8:48381600-48392000	Weak transcription	Right Ventricle	heart
19	chr8:48382400-48390200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:48383000-48389200	Enhancers	Fetal Intestine Large	intestine
21	chr8:48383400-48388800	Weak transcription	Psoas Muscle	Psoas
22	chr8:48383600-48385200	Enhancers	Fetal Lung	lung
23	chr8:48383600-48389400	Enhancers	Fetal Intestine Small	intestine
24	chr8:48383800-48384800	Enhancers	HepG2	liver
25	chr8:48383800-48385200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:48384000-48385000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:48384000-48385800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:48384200-48387800	Weak transcription	Small Intestine	intestine
29	chr8:48384400-48387000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:48384400-48396000	Weak transcription	Primary T cells from cord blood	blood
31	chr8:48384600-48384800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:48384600-48384800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:48384600-48384800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:48384600-48384800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr8:48384600-48384800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr8:48384600-48385000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:48384600-48385000	Enhancers	Gastric	stomach
38	chr8:48384600-48385000	Enhancers	Right Atrium	heart
39	chr8:48384600-48385600	Flanking Active TSS	A549	lung
40	chr8:48384600-48386000	Enhancers	Liver	Liver
41	chr8:48384600-48386200	Enhancers	Lung	lung
42	chr8:48384600-48386800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:48384600-48389000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:48384600-48389200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:48384600-48389200	Enhancers	Pancreas	Pancrea
46	chr8:48384600-48389400	Enhancers	Stomach Mucosa	stomach
47	chr8:48384600-48396800	Weak transcription	Fetal Brain Male	brain

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