Variant report

Variant	rs12708253
Chromosome Location	chr9:12921676-12921677
allele	A/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:16)

rs_ID	r²[population]
rs10122098	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10125252	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12338576	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13293601	0.82[EUR][1000 genomes]
rs13440240	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13440325	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984049	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1984050	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1984051	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28545148	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28638037	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34392930	0.96[EUR][1000 genomes]
rs35873446	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7044595	0.80[EUR][1000 genomes]
rs7847454	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870401	0.88[AMR][1000 genomes];0.98[EUR][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	nsv498136	chr9:12387840-12984158	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv613615	chr9:12830070-12947238	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 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	chr9:12916200-12922400	Weak transcription	Fetal Lung	lung
2	chr9:12917000-12922600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:12917000-12933600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:12917200-12922600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:12917200-12930000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:12917200-12934000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:12917400-12921800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:12917400-12922200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:12917400-12933600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr9:12917600-12921800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:12921600-12922400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:12921600-12922800	Enhancers	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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