Variant report

Variant	rs9726422
Chromosome Location	chr1:221604980-221604981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10465658	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495176	0.90[EUR][1000 genomes]
rs12134883	0.85[JPT][hapmap]
rs12562069	0.90[EUR][1000 genomes]
rs1380251	0.90[EUR][1000 genomes]
rs17009966	0.90[EUR][1000 genomes]
rs56245908	0.90[EUR][1000 genomes]
rs72730814	0.90[EUR][1000 genomes]
rs72730815	0.90[EUR][1000 genomes]
rs72730817	0.90[EUR][1000 genomes]
rs72730821	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72730823	0.90[EUR][1000 genomes]
rs72746084	0.90[EUR][1000 genomes]
rs72746086	0.86[EUR][1000 genomes]
rs72746087	0.90[EUR][1000 genomes]
rs9308394	0.86[AFR][1000 genomes]
rs9730332	0.86[AFR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9726422	SNX32	trans	brain	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221593400-221605000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:221602200-221605200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:221602400-221606800	Enhancers	Hela-S3	cervix
4	chr1:221602800-221608600	Weak transcription	NHDF-Ad	bronchial
5	chr1:221603600-221605000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:221603600-221605000	Enhancers	Osteobl	bone
7	chr1:221603600-221605200	Enhancers	HUVEC	blood vessel
8	chr1:221603600-221605400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:221603800-221605000	Enhancers	A549	lung
10	chr1:221603800-221609800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:221604000-221605000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:221604600-221605000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:221604600-221606000	Enhancers	Colon Smooth Muscle	Colon
14	chr1:221604800-221605200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:221604800-221605400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:221604800-221606000	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:221604800-221608600	Weak transcription	NHLF	lung
18	chr1:221604800-221612800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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