Variant report

Variant	rs28422810
Chromosome Location	chr4:129430661-129430662
allele	G/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:10)

rs_ID	r²[population]
rs10020418	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10025252	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1216403	1.00[AMR][1000 genomes]
rs17013309	1.00[AMR][1000 genomes]
rs28612367	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28670624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28689154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60266924	1.00[AMR][1000 genomes]
rs60416613	1.00[AMR][1000 genomes]
rs6835797	0.92[AFR][1000 genomes];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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129376600-129435000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:129425800-129445600	Weak transcription	Gastric	stomach
3	chr4:129426200-129433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:129426200-129433200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:129429800-129434200	Weak transcription	HSMMtube	muscle
6	chr4:129430200-129430800	Enhancers	A549	lung
7	chr4:129430600-129438600	Weak transcription	Fetal Heart	heart

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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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