Variant report

Variant	rs2803243
Chromosome Location	chr1:63369333-63369334
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10889388	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10889389	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10889390	1.00[ASN][1000 genomes]
rs10889391	1.00[ASN][1000 genomes]
rs11208059	1.00[ASN][1000 genomes]
rs12042640	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12047682	1.00[ASN][1000 genomes]
rs12569334	1.00[ASN][1000 genomes]
rs12751505	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2780878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2803239	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2803241	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2803242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830015	chr1:63261143-63455296	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2803243	USP1	cis	parietal	SCAN
rs2803243	CACHD1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63366800-63370600	Weak transcription	ES-I3 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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