Variant report

Variant	rs7296691
Chromosome Location	chr12:104091584-104091585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10778277	0.86[CHB][hapmap]
rs11111716	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614418	0.84[GIH][hapmap]
rs1965076	0.81[CHB][hapmap]
rs696214	0.89[ASW][hapmap];0.87[CHB][hapmap];0.86[GIH][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs697204	0.89[ASW][hapmap];0.87[CHB][hapmap];0.86[GIH][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs697205	0.82[AMR][1000 genomes]
rs697206	0.87[CHB][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes]
rs697207	0.85[CHB][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7136870	0.92[CEU][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs7296561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312283	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv560038	chr12:104053420-104092996	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	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
rs7296691	PAH	cis	cerebellum	SCAN
rs7296691	TXNRD1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104089800-104093800	Strong transcription	Spleen	Spleen
2	chr12:104090200-104097000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:104091200-104092000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:104091400-104093600	Enhancers	Primary monocytes fromperipheralblood	blood

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