Variant report

Variant	rs12818296
Chromosome Location	chr12:21522554-21522555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12809265	0.86[EUR][1000 genomes]
rs12817281	0.86[EUR][1000 genomes]
rs12831290	0.86[EUR][1000 genomes]
rs17333533	1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs17680758	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17681255	1.00[MEX][hapmap];1.00[MKK][hapmap]
rs17681288	1.00[MEX][hapmap];1.00[MKK][hapmap]
rs34758237	0.86[EUR][1000 genomes]
rs35197974	0.86[EUR][1000 genomes]
rs36176879	0.86[EUR][1000 genomes]
rs7959775	0.86[EUR][1000 genomes]
rs7959833	0.86[EUR][1000 genomes]
rs7960160	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557735	chr12:21443282-21538957	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv469161	chr12:21507702-21555691	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv557737	chr12:21507702-21555691	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2750499	chr12:21512318-21522767	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1040888	chr12:21522271-21568550	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21520600-21529200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:21521200-21526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:21522000-21523400	Enhancers	HUVEC	blood vessel
4	chr12:21522200-21522800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:21522200-21522800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:21522200-21523000	Enhancers	Osteobl	bone

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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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