Variant report

Variant	rs60813739
Chromosome Location	chr21:16740547-16740548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11911211	0.89[AMR][1000 genomes]
rs17464781	0.89[AMR][1000 genomes]
rs73336626	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346504	0.85[AFR][1000 genomes];0.89[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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16738600-16747600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr21:16739800-16740800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:16740000-16740600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr21:16740000-16740600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr21:16740000-16740600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr21:16740000-16740600	Weak transcription	Psoas Muscle	Psoas
7	chr21:16740000-16741000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr21:16740000-16741200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr21:16740000-16742600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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