Variant report

Variant	rs11800726
Chromosome Location	chr1:226523560-226523561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10799348	0.96[ASN][1000 genomes]
rs10915975	0.80[CHD][hapmap]
rs10915976	0.95[ASN][1000 genomes]
rs11799818	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11805809	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4653723	0.91[ASN][1000 genomes]
rs4653727	0.89[ASN][1000 genomes]
rs58027411	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61101869	0.88[EUR][1000 genomes]
rs61642967	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61836916	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66497972	0.88[EUR][1000 genomes]
rs66554885	0.86[AMR][1000 genomes];0.96[EUR][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	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11800726	TMEM164	trans	parietal	SCAN
rs11800726	DISP1	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226521200-226523600	Weak transcription	Fetal Lung	lung
2	chr1:226521200-226524800	Weak transcription	K562	blood
3	chr1:226521400-226541000	Weak transcription	Right Atrium	heart
4	chr1:226521600-226525200	Weak transcription	GM12878-XiMat	blood
5	chr1:226523200-226524000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:226523400-226524000	Enhancers	Fetal Heart	heart

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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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