Variant report

Variant	rs9984071
Chromosome Location	chr21:16853035-16853036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs8128899	1.00[AMR][1000 genomes]
rs9976830	0.87[AFR][1000 genomes]
rs9977796	0.82[YRI][hapmap]
rs9980374	0.82[YRI][hapmap]
rs9983231	0.91[YRI][hapmap]
rs9983441	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16845600-16855000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:16850400-16856200	Enhancers	Dnd41	blood
3	chr21:16850800-16858800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:16851200-16856400	Enhancers	Primary hematopoietic stem cells	blood
5	chr21:16851800-16853200	Enhancers	Primary T cells from cord blood	blood
6	chr21:16851800-16855600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr21:16852600-16855400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr21:16852600-16855400	Weak transcription	Fetal Thymus	thymus
9	chr21:16852800-16854200	Weak transcription	A549	lung
10	chr21:16852800-16855000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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