Variant report

Variant	rs1930293
Chromosome Location	chr1:184294167-184294168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10911556	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911557	0.93[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911560	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059311	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069709	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074351	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079075	0.81[EUR][1000 genomes]
rs12079081	0.84[EUR][1000 genomes]
rs12083933	1.00[CHD][hapmap]
rs12096575	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117439	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403673	0.80[EUR][1000 genomes]
rs12726204	1.00[CHD][hapmap]
rs12727053	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727591	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12728309	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12746499	1.00[CHD][hapmap]
rs1318406	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34110117	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34782871	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4263963	0.80[EUR][1000 genomes]
rs4618934	0.95[EUR][1000 genomes]
rs4622032	0.80[EUR][1000 genomes]
rs4651196	0.80[EUR][1000 genomes]
rs6424946	0.80[EUR][1000 genomes]
rs66536948	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645302	1.00[GIH][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.94[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1930293	C1orf125	cis	parietal	SCAN
rs1930293	HMCN1	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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