Variant report

Variant	rs6666777
Chromosome Location	chr1:175391741-175391742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10912981	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10912982	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11810753	0.87[ASN][1000 genomes]
rs12083023	0.85[ASN][1000 genomes]
rs12086602	0.85[ASN][1000 genomes]
rs12565878	0.85[ASN][1000 genomes]
rs2086930	0.85[ASN][1000 genomes]
rs6425349	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6656789	0.87[ASN][1000 genomes]
rs6662001	0.85[ASN][1000 genomes]
rs6677210	0.85[ASN][1000 genomes]
rs6688421	0.83[ASN][1000 genomes]
rs859473	0.89[ASN][1000 genomes]
rs9793649	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9793995	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv831948	chr1:175229631-175407303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2764232	chr1:175387997-175504394	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6666777	DNM3	cis	cerebellum	SCAN
rs6666777	FMO6P	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175388800-175393000	Enhancers	Fetal Intestine Small	intestine
2	chr1:175389400-175394000	Enhancers	Fetal Intestine Large	intestine
3	chr1:175390400-175391800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:175390600-175391800	Enhancers	hESC Derived CD184+ Endoderm 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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