Variant report

Variant	rs8127836
Chromosome Location	chr21:28174987-28174988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13047943	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2067899	0.89[EUR][1000 genomes]
rs2830533	0.80[EUR][1000 genomes]
rs2830534	0.80[EUR][1000 genomes]
rs2830537	0.80[EUR][1000 genomes]
rs2830545	0.89[EUR][1000 genomes]
rs2830546	0.89[EUR][1000 genomes]
rs2830549	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57052686	0.85[EUR][1000 genomes]
rs59042813	0.85[EUR][1000 genomes]
rs59820829	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60099514	0.87[EUR][1000 genomes]
rs872265	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 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	chr21:28168400-28176400	Weak transcription	Left Ventricle	heart
2	chr21:28170800-28181000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:28172400-28175000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:28172800-28177200	Weak transcription	Placenta	Placenta
5	chr21:28173000-28177400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr21:28173600-28177400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:28173800-28175000	Enhancers	NHLF	lung
8	chr21:28173800-28177200	Weak transcription	Fetal Muscle Leg	muscle
9	chr21:28173800-28177200	Weak transcription	Fetal Stomach	stomach
10	chr21:28174000-28175000	Weak transcription	Ovary	ovary
11	chr21:28174000-28178800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:28174000-28185400	Weak transcription	HSMMtube	muscle
13	chr21:28174200-28175000	Enhancers	NHDF-Ad	bronchial
14	chr21:28174400-28178800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr21:28174600-28175000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:28174600-28176800	Weak transcription	Hela-S3	cervix
17	chr21:28174600-28177200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:28174600-28187800	Weak transcription	Osteobl	bone
19	chr21:28174800-28176800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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