Variant report

Variant	rs59949852
Chromosome Location	chr21:16528073-16528074
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:14)

rs_ID	r²[population]
rs1009576	0.90[EUR][1000 genomes]
rs11908720	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2254223	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2823103	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2823104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2823105	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823109	0.93[EUR][1000 genomes]
rs2823114	0.89[EUR][1000 genomes]
rs58228216	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59210723	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7279147	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974170	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9975709	0.84[AFR][1000 genomes]
rs9976384	0.90[EUR][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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16514600-16529600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr21:16521400-16529600	Weak transcription	Adipose Nuclei	Adipose
3	chr21:16526800-16528200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:16526800-16528200	Enhancers	Pancreas	Pancrea
5	chr21:16527000-16528200	Enhancers	Left Ventricle	heart
6	chr21:16527400-16528600	Enhancers	Fetal Intestine Small	intestine
7	chr21:16527400-16528800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr21:16527400-16528800	Enhancers	Fetal Intestine Large	intestine
9	chr21:16527800-16528200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:16527800-16528200	Enhancers	Fetal Heart	heart
11	chr21:16527800-16528200	Enhancers	Gastric	stomach
12	chr21:16527800-16528200	Enhancers	HepG2	liver
13	chr21:16527800-16528200	Enhancers	K562	blood
14	chr21:16528000-16536600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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