Variant report

Variant	rs447988
Chromosome Location	chr21:40488747-40488748
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:20)

rs_ID	r²[population]
rs1041439	1.00[ASW][hapmap]
rs11910971	1.00[ASW][hapmap]
rs1984748	1.00[ASW][hapmap]
rs2142117	1.00[ASW][hapmap]
rs2150410	1.00[ASW][hapmap]
rs2272577	1.00[ASW][hapmap]
rs376521	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs383967	1.00[ASW][hapmap]
rs413078	1.00[ASW][hapmap]
rs4314079	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6517528	1.00[ASW][hapmap]
rs6517532	1.00[ASW][hapmap]
rs6517541	1.00[ASW][hapmap]
rs7275773	1.00[ASW][hapmap]
rs7281074	1.00[ASW][hapmap]
rs7282947	1.00[YRI][hapmap]
rs8131150	1.00[ASW][hapmap]
rs8132230	1.00[ASW][hapmap]
rs973521	1.00[ASW][hapmap]
rs9982122	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40478600-40497000	Weak transcription	Right Atrium	heart
2	chr21:40486600-40497800	Weak transcription	Thymus	Thymus
3	chr21:40487200-40496400	Weak transcription	Aorta	Aorta
4	chr21:40487200-40497600	Weak transcription	Colonic Mucosa	Colon
5	chr21:40487400-40488800	Weak transcription	Placenta	Placenta
6	chr21:40487600-40490600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:40487600-40492600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr21:40487600-40493000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:40487800-40491800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:40487800-40492800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr21:40487800-40493000	Weak transcription	Psoas Muscle	Psoas
12	chr21:40487800-40497600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr21:40488000-40491600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:40488000-40493000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:40488200-40493400	Weak transcription	Lung	lung

Quick Search:

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

what's new

Quick links