Variant report

Variant	rs28414550
Chromosome Location	chr4:54723001-54723002
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1466829	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466832	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466833	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083585	0.87[ASN][1000 genomes]
rs17083601	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17083603	0.87[ASN][1000 genomes]
rs17083606	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17083607	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537559	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382094	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4632721	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58241271	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816667	0.87[ASN][1000 genomes]
rs6852777	0.87[ASN][1000 genomes]
rs73143864	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817125	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014792	chr4:54655382-54768963	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537095	chr4:54655382-54768963	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54711000-54725400	Weak transcription	Psoas Muscle	Psoas
2	chr4:54716800-54727800	Weak transcription	Fetal Heart	heart
3	chr4:54720600-54723200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:54720600-54723200	Enhancers	Fetal Stomach	stomach
5	chr4:54720600-54723400	Enhancers	Osteobl	bone
6	chr4:54720600-54723600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:54720800-54723200	Enhancers	NHLF	lung
8	chr4:54720800-54723600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:54721000-54723200	Enhancers	NH-A	brain
10	chr4:54722000-54723800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:54722400-54723200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:54722400-54723200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:54722600-54723200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:54722600-54723200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:54722600-54723400	Enhancers	Fetal Lung	lung
16	chr4:54722600-54723800	Enhancers	NHDF-Ad	bronchial
17	chr4:54723000-54728200	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:54723000-54728400	Weak transcription	HMEC	breast
19	chr4:54723000-54728600	Weak transcription	Fetal Kidney	kidney

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Input of quick search could be:

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

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