Variant report

Variant	rs12334469
Chromosome Location	chr8:125980222-125980223
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10104558	0.89[EUR][1000 genomes]
rs10105106	0.94[EUR][1000 genomes]
rs10105727	0.89[EUR][1000 genomes]
rs10107774	0.94[EUR][1000 genomes]
rs10216983	0.94[EUR][1000 genomes]
rs10481077	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10481078	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12335277	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28828449	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73706181	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73706184	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73706186	0.87[AMR][1000 genomes]
rs73706190	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9297705	0.86[AMR][1000 genomes];0.83[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125969800-125985000	Weak transcription	Right Atrium	heart
2	chr8:125977400-125982000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:125977400-125985400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:125977600-125985200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:125977600-125985600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:125979400-125980400	Flanking Active TSS	HepG2	liver
7	chr8:125979600-125980600	Enhancers	K562	blood
8	chr8:125979600-125985200	Weak transcription	Fetal Heart	heart
9	chr8:125979800-125982000	Weak transcription	Placenta	Placenta
10	chr8:125979800-125985400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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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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