Variant report

Variant	rs6792281
Chromosome Location	chr3:56073859-56073860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12496267	0.85[EUR][1000 genomes]
rs1485675	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap]
rs17056416	0.91[EUR][1000 genomes]
rs1878928	0.91[EUR][1000 genomes]
rs4974165	0.98[ASN][1000 genomes]
rs7625720	0.98[ASN][1000 genomes]
rs9823863	1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]

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	nsv1013063	chr3:55835413-56173713	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1009709	chr3:56000827-56294945	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6792281	CCDC66	cis	parietal	SCAN
rs6792281	TWF2	cis	parietal	SCAN
rs6792281	HESX1	cis	cerebellum	SCAN
rs6792281	FLNB	cis	cerebellum	SCAN
rs6792281	ERC2	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56071000-56084600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:56071400-56075800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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