Variant report

Variant	rs6833117
Chromosome Location	chr4:54775640-54775641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11938083	1.00[AMR][1000 genomes]
rs6554149	1.00[AMR][1000 genomes]
rs6815566	1.00[AFR][1000 genomes]
rs6842097	1.00[AFR][1000 genomes]
rs9995137	1.00[AMR][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	nsv879017	chr4:54656948-54784205	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1014456	chr4:54759975-54807987	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1014406	chr4:54773519-54813321	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54771000-54775800	Enhancers	Fetal Heart	heart
2	chr4:54771000-54776000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:54774400-54775800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:54774400-54782600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:54775200-54775800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:54775200-54780400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:54775400-54775800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:54775400-54775800	Bivalent Enhancer	Fetal Lung	lung
9	chr4:54775400-54775800	Enhancers	HMEC	breast
10	chr4:54775400-54775800	Enhancers	HSMM	muscle
11	chr4:54775400-54775800	Enhancers	HSMMtube	muscle
12	chr4:54775400-54775800	Enhancers	NHDF-Ad	bronchial
13	chr4:54775400-54775800	Enhancers	Osteobl	bone
14	chr4:54775400-54783200	Weak transcription	Aorta	Aorta
15	chr4:54775600-54775800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:54775600-54775800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:54775600-54775800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:54775600-54775800	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:54775600-54775800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:54775600-54775800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:54775600-54775800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:54775600-54775800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr4:54775600-54776800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:54775600-54778400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:54775600-54778400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr4:54775600-54778600	Weak transcription	NHEK	skin
27	chr4:54775600-54778800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:54775600-54778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:54775600-54779600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:54775600-54780000	Weak transcription	NHLF	lung
31	chr4:54775600-54780200	Weak transcription	HUVEC	blood vessel
32	chr4:54775600-54780400	Weak transcription	NH-A	brain
33	chr4:54775600-54780800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:54775600-54780800	Weak transcription	Hela-S3	cervix

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