Variant report

Variant	rs443823
Chromosome Location	chr21:17340364-17340365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12626998	0.90[ASN][1000 genomes]
rs17275497	1.00[ASW][hapmap]
rs372862	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs380087	0.96[EUR][1000 genomes]
rs401710	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs407921	0.84[ASN][1000 genomes]
rs409460	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs418236	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs442208	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs443169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9978023	0.89[ASN][1000 genomes]

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	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv3463	chr21:17327119-17343458	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1064664	chr21:17336936-17405756	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17337600-17340400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr21:17338000-17340400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:17339800-17340600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:17339800-17340600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:17339800-17340600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:17339800-17340600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr21:17339800-17340600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr21:17339800-17340800	Enhancers	HMEC	breast
9	chr21:17339800-17340800	Enhancers	HSMM	muscle
10	chr21:17339800-17340800	Enhancers	HSMMtube	muscle
11	chr21:17340000-17340400	Enhancers	NHEK	skin
12	chr21:17340000-17340600	Enhancers	NH-A	brain
13	chr21:17340000-17340800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr21:17340200-17340600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr21:17340200-17340600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:17340200-17340600	Enhancers	Muscle Satellite Cultured Cells	--

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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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