Variant report

Variant	rs7547333
Chromosome Location	chr1:228827672-228827673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489542	1.00[CEU][hapmap]
rs12066510	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12759973	0.96[EUR][1000 genomes]
rs13376515	0.88[EUR][1000 genomes]
rs2180162	1.00[CEU][hapmap]
rs34046190	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34813976	1.00[EUR][1000 genomes]
rs35491362	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3820265	1.00[CEU][hapmap]
rs4654723	0.83[EUR][1000 genomes]
rs57678178	0.86[EUR][1000 genomes]
rs61825702	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6426511	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6665140	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6679936	0.96[EUR][1000 genomes]
rs6692721	0.96[EUR][1000 genomes]
rs7544212	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013051	chr1:228786702-228903706	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1009511	chr1:228791784-228853665	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2762224	chr1:228791784-228867656	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228822000-228831000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:228822600-228828000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:228826400-228827800	Enhancers	Fetal Lung	lung
4	chr1:228827600-228827800	Enhancers	Colon Smooth Muscle	Colon
5	chr1:228827600-228827800	Enhancers	HepG2	liver
6	chr1:228827600-228828200	Enhancers	Liver	Liver
7	chr1:228827600-228828200	Enhancers	Fetal Intestine Large	intestine

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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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