Variant report

Variant	rs8050306
Chromosome Location	chr16:48197103-48197104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10521168	1.00[GIH][hapmap]
rs17743708	0.92[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17821664	0.92[CEU][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17822052	0.92[CEU][hapmap];0.98[EUR][1000 genomes]
rs41280941	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55978876	1.00[EUR][1000 genomes]
rs61739606	1.00[EUR][1000 genomes]
rs62058520	1.00[EUR][1000 genomes]
rs62058523	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62058524	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62058525	1.00[EUR][1000 genomes]
rs62058527	1.00[EUR][1000 genomes]
rs62058529	1.00[EUR][1000 genomes]
rs62058530	1.00[EUR][1000 genomes]
rs62058531	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8050306	LRRIQ3	trans	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48191000-48198800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:48191000-48199000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:48192600-48199000	Weak transcription	NHLF	lung
4	chr16:48192800-48198800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:48192800-48198800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:48192800-48198800	Weak transcription	HMEC	breast
7	chr16:48192800-48204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:48193600-48197400	Enhancers	A549	lung
9	chr16:48196400-48198800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:48196400-48199000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:48196600-48197200	Enhancers	Liver	Liver
12	chr16:48196800-48197200	Flanking Active TSS	HepG2	liver
13	chr16:48197000-48197200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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