Variant report

Variant	rs8128228
Chromosome Location	chr21:41473566-41473567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10439622	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13048945	0.88[AFR][1000 genomes]
rs13051821	1.00[ASW][hapmap];0.81[LWK][hapmap];0.82[AFR][1000 genomes]
rs2410213	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs28838617	0.89[AMR][1000 genomes]
rs7280514	0.81[AMR][1000 genomes]
rs9974139	0.82[AFR][1000 genomes]
rs9974829	0.82[AFR][1000 genomes]
rs9981252	0.89[AMR][1000 genomes]
rs9981369	0.80[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	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
3	nsv523501	chr21:41467826-41479698	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8128228	C2CD2	cis	cerebellum	SCAN
rs8128228	LCA5L	cis	cerebellum	SCAN
rs8128228	B3GALT5	cis	cerebellum	SCAN
rs8128228	TMPRSS3	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41447800-41473600	Weak transcription	Brain Angular Gyrus	brain
2	chr21:41470800-41477200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:41473000-41473600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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

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