Variant report

Variant	rs7275547
Chromosome Location	chr21:41462760-41462761
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28399843	0.82[AMR][1000 genomes]
rs8130948	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913745	chr21:41423346-41473566	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv587488	chr21:41452034-41477207	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7275547	TFF3	cis	cerebellum	SCAN
rs7275547	PDE9A	cis	cerebellum	SCAN
rs7275547	TTC3	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41446000-41470400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:41447800-41473600	Weak transcription	Brain Angular Gyrus	brain
3	chr21:41452000-41465800	Weak transcription	Fetal Brain Female	brain
4	chr21:41453200-41467000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:41455000-41468000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:41461600-41465400	Strong transcription	hESC Derived CD184+ Endoderm 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