Variant report

Variant	rs9982531
Chromosome Location	chr21:16894361-16894362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28721410	1.00[AMR][1000 genomes]
rs7283640	1.00[AMR][1000 genomes]
rs8128947	1.00[AMR][1000 genomes]
rs8130078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133690	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9982668	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9983733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9983830	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984933	0.89[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16893200-16894600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr21:16893400-16894800	Enhancers	Placenta	Placenta
3	chr21:16893400-16894800	ZNF genes & repeats	Dnd41	blood
4	chr21:16893600-16894400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:16893600-16894400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr21:16893600-16894400	ZNF genes & repeats	Fetal Thymus	thymus
7	chr21:16893600-16894800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:16893800-16894400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:16893800-16894400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:16893800-16897400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:16894000-16898600	Weak transcription	Primary T cells from cord blood	blood
12	chr21:16894000-16898800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr21:16894000-16899200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:16894200-16894400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:16894200-16898400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr21:16894200-16899000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr21:16894200-16899000	Weak transcription	Primary T helper cells fromperipheralblood	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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