Variant report

Variant	rs11977294
Chromosome Location	chr7:48687716-48687717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10268266	0.86[JPT][hapmap]
rs1358409	0.82[JPT][hapmap]
rs1527842	0.80[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap]
rs1918583	0.88[CEU][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3915483	0.84[CEU][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3923511	0.82[LWK][hapmap]
rs4917024	0.80[CEU][hapmap];0.82[CHD][hapmap];0.80[MEX][hapmap]
rs55652646	0.80[AMR][1000 genomes]
rs6955686	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790288	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7811654	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[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	nsv606894	chr7:48663637-48718598	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11977294	FIGNL1	cis	cerebellum	SCAN
rs11977294	C7orf57	cis	cerebellum	SCAN
rs11977294	ADCY1	cis	parietal	SCAN
rs11977294	CCM2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48672600-48688800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48683400-48689000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:48687400-48687800	Weak transcription	Fetal Heart	heart

Quick Search:

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

what's new

Quick links