Variant report

Variant	rs818716
Chromosome Location	chr9:116193990-116193991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10733605	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs14419	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs3761820	0.81[GIH][hapmap]
rs4979254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7019874	0.81[AMR][1000 genomes]
rs7037761	1.00[JPT][hapmap]
rs7875727	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs818684	0.81[GIH][hapmap]
rs818686	0.81[GIH][hapmap]
rs818687	0.85[ASW][hapmap];0.81[GIH][hapmap]
rs818689	0.85[ASW][hapmap];0.81[GIH][hapmap]
rs818693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs818694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs818696	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs818697	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs818716	ALAD	cis	lymphoblastoid	seeQTL
rs818716	ALAD	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116184600-116199200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:116186000-116199200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:116191000-116194000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:116191000-116199800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:116191200-116200600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:116191600-116195600	Strong transcription	Primary hematopoietic stem cells	blood
7	chr9:116192800-116194200	Enhancers	HUVEC	blood vessel

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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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