Variant report

Variant	rs5997339
Chromosome Location	chr22:28534249-28534250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12157776	1.00[AMR][1000 genomes]
rs12158391	1.00[AMR][1000 genomes]
rs12159201	1.00[AMR][1000 genomes]
rs12159396	1.00[AMR][1000 genomes]
rs5997329	1.00[AMR][1000 genomes]
rs5997340	1.00[AMR][1000 genomes]
rs6005707	1.00[AMR][1000 genomes]
rs6005718	1.00[AMR][1000 genomes]
rs6005753	1.00[AMR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
2	chr22:28513200-28538000	Weak transcription	Dnd41	blood
3	chr22:28516800-28534600	Weak transcription	Fetal Brain Female	brain
4	chr22:28528200-28535200	Weak transcription	Fetal Heart	heart
5	chr22:28529600-28535800	Weak transcription	Ovary	ovary
6	chr22:28530000-28535800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:28531800-28535400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:28532800-28535000	Weak transcription	Stomach Mucosa	stomach
9	chr22:28533000-28537800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr22:28533400-28535000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr22:28533400-28535000	Weak transcription	NHDF-Ad	bronchial
12	chr22:28533400-28536000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:28533600-28534400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:28533600-28534600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:28533600-28534800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:28533600-28534800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:28533600-28535000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:28533600-28535000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:28533600-28535400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:28533600-28535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:28533600-28535800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:28533600-28536000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr22:28533600-28542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:28533800-28534600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:28533800-28559000	Weak transcription	Aorta	Aorta
26	chr22:28534200-28545200	Enhancers	Fetal Lung	lung

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