Variant report

Variant	rs480820
Chromosome Location	chr1:166758542-166758543
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10918584	1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs12040139	0.83[ASN][1000 genomes]
rs12040693	0.83[ASN][1000 genomes]
rs12049207	0.96[ASN][1000 genomes]
rs1883119	0.82[ASN][1000 genomes]
rs479441	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs506167	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs514704	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs526740	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs529187	0.93[ASN][1000 genomes]
rs533062	0.93[ASN][1000 genomes]
rs533094	0.93[ASN][1000 genomes]
rs540996	0.94[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs545724	0.93[ASN][1000 genomes]
rs562445	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs569013	0.82[ASN][1000 genomes]
rs569129	0.98[ASN][1000 genomes]
rs572582	0.82[ASN][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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3375449	chr1:166754628-166758990	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
3	nsv519275	chr1:166758542-166767050	Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs480820	FCRLA	cis	parietal	SCAN
rs480820	PCP4L1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166758400-166758800	Enhancers	HMEC	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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