Variant report

Variant	rs28371390
Chromosome Location	chr4:82124238-82124239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3733552	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4149	0.92[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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82119800-82125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:82120200-82125800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:82121600-82125200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:82121600-82125800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:82122200-82125800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:82122200-82127800	Weak transcription	NHDF-Ad	bronchial
7	chr4:82122200-82128400	Weak transcription	NHLF	lung
8	chr4:82122200-82129400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:82122800-82125000	Weak transcription	Fetal Intestine Large	intestine
10	chr4:82123600-82125800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:82124000-82124400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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