Variant report

Variant	rs12597421
Chromosome Location	chr16:80068399-80068400
allele	A/C
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]
rs12051191	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12597942	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4077493	0.83[AFR][1000 genomes]
rs4077494	0.83[AFR][1000 genomes]
rs4286117	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4362404	0.81[AFR][1000 genomes]
rs4441287	0.91[EUR][1000 genomes]
rs4461085	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4533299	0.91[LWK][hapmap];0.86[MKK][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes]
rs4888065	0.95[EUR][1000 genomes]
rs4888066	0.88[CEU][hapmap];0.95[EUR][1000 genomes]
rs4889071	0.83[ASW][hapmap];0.89[CEU][hapmap];0.97[GIH][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs4889072	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs4889073	0.95[EUR][1000 genomes]
rs6564725	0.93[EUR][1000 genomes]
rs7194550	0.93[EUR][1000 genomes]
rs7196219	0.92[EUR][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80061400-80068800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:80062000-80069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:80062000-80075000	Weak transcription	NH-A	brain
4	chr16:80062800-80070200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:80064000-80072400	Weak transcription	Esophagus	oesophagus
6	chr16:80064400-80072200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:80064600-80072200	Weak transcription	NHEK	skin
8	chr16:80064600-80073600	Weak transcription	HMEC	breast
9	chr16:80068000-80068400	Enhancers	HSMM	muscle

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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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