Variant report

Variant	rs28718858
Chromosome Location	chr21:44630222-44630223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2838225	1.00[ASN][1000 genomes]
rs59325549	1.00[EUR][1000 genomes]
rs73374272	1.00[EUR][1000 genomes]
rs73376213	1.00[EUR][1000 genomes]
rs73376237	1.00[EUR][1000 genomes]
rs73376238	1.00[EUR][1000 genomes]
rs73376241	1.00[EUR][1000 genomes]
rs73906468	1.00[EUR][1000 genomes]
rs73906487	1.00[EUR][1000 genomes]
rs73906488	1.00[EUR][1000 genomes]
rs73906489	1.00[EUR][1000 genomes]
rs73906491	1.00[EUR][1000 genomes]
rs73906494	1.00[EUR][1000 genomes]
rs73906499	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73909413	1.00[EUR][1000 genomes]
rs8128881	1.00[ASN][1000 genomes]
rs9976127	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978735	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
5	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr21:44621600-44632200	Weak transcription	Right Atrium	heart
2	chr21:44627600-44630800	Weak transcription	Spleen	Spleen
3	chr21:44629000-44631800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:44629200-44630800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:44629600-44631000	Enhancers	NH-A	brain
6	chr21:44629600-44631600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:44629600-44632200	Enhancers	Gastric	stomach
8	chr21:44629600-44632400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr21:44629800-44630400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:44629800-44630800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:44629800-44630800	Flanking Active TSS	A549	lung
12	chr21:44630000-44630400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:44630000-44630600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:44630000-44630800	Enhancers	Placenta	Placenta
15	chr21:44630000-44630800	Flanking Bivalent TSS/Enh	HepG2	liver
16	chr21:44630000-44630800	Enhancers	Osteobl	bone
17	chr21:44630000-44632400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr21:44630000-44632400	Flanking Active TSS	Hela-S3	cervix
19	chr21:44630200-44632200	Enhancers	Pancreas	Pancrea

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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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