Variant report

Variant	rs57331457
Chromosome Location	chr21:16881422-16881423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2823313	0.97[AFR][1000 genomes]
rs59490564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61517454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7276284	0.97[AFR][1000 genomes]
rs7276700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7277456	1.00[AFR][1000 genomes]
rs7279471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7283642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73892628	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73892630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73892631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73892632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8131701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1064621	chr21:16881027-16937290	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 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	chr21:16880400-16881800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr21:16880400-16881800	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr21:16880400-16882200	Enhancers	Dnd41	blood
4	chr21:16880600-16881800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr21:16880600-16882200	Enhancers	HepG2	liver
6	chr21:16880800-16881600	Enhancers	Primary T cells from cord blood	blood
7	chr21:16880800-16881600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:16880800-16881800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr21:16881000-16881800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr21:16881200-16881800	Enhancers	Fetal Thymus	thymus
11	chr21:16881400-16881800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:16881400-16885200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr21:16881400-16885400	Weak transcription	Thymus	Thymus
14	chr21:16881400-16886000	Weak transcription	Primary B cells from peripheral blood	blood

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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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