Variant report

Variant	rs12325730
Chromosome Location	chr17:53543600-53543601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11656380	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11870717	0.99[ASN][1000 genomes]
rs12150374	0.95[ASN][1000 genomes]
rs12940911	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12942292	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12943574	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12950992	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17819194	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17819212	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4432304	0.93[ASN][1000 genomes]
rs4794592	0.99[ASN][1000 genomes]
rs55794935	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7220600	0.99[ASN][1000 genomes]
rs7225691	0.93[ASN][1000 genomes]
rs9903218	0.98[ASN][1000 genomes]
rs9908571	0.98[ASN][1000 genomes]
rs9910434	0.98[ASN][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	nsv2100	chr17:53492380-54328516	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1062337	chr17:53510996-54161442	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:53530400-53544000	Weak transcription	Fetal Kidney	kidney
2	chr17:53541800-53543800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:53542400-53545200	Enhancers	Duodenum Mucosa	Duodenum
4	chr17:53542600-53544200	Enhancers	GM12878-XiMat	blood
5	chr17:53543000-53543800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr17:53543000-53544200	Enhancers	Left Ventricle	heart
7	chr17:53543000-53544600	Enhancers	Adipose Nuclei	Adipose
8	chr17:53543200-53544400	Enhancers	Placenta	Placenta
9	chr17:53543400-53543800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr17:53543600-53543800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr17:53543600-53544600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr17:53543600-53545200	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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