Variant report

Variant	rs12429730
Chromosome Location	chr13:80410145-80410146
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12430637	0.83[AFR][1000 genomes]
rs12875666	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1335281	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2027146	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2027147	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2027148	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2152226	0.82[ASN][1000 genomes]
rs34928706	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4628842	0.87[AMR][1000 genomes]
rs4885669	0.84[ASN][1000 genomes]
rs4885670	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4885676	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4885677	0.83[AMR][1000 genomes]
rs6563137	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs713614	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs713615	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7319612	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7333650	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7333880	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7338949	0.89[AMR][1000 genomes]
rs74099556	0.83[AMR][1000 genomes]
rs7982512	0.84[AMR][1000 genomes]
rs7983143	0.89[AMR][1000 genomes]
rs7984156	0.92[ASW][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs7990168	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7990447	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9530975	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530976	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9530978	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9530979	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9530983	0.82[TSI][hapmap];0.83[AMR][1000 genomes]
rs9545235	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9545236	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9545242	0.84[AMR][1000 genomes]
rs9545246	0.84[AMR][1000 genomes]
rs9646080	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970738	1.00[AMR][1000 genomes];0.99[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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv900590	chr13:80342186-80421340	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1043768	chr13:80398379-80447095	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr13:80405800-80411800	Weak transcription	NHLF	lung
2	chr13:80408400-80410400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr13:80408400-80410400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:80409000-80410200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:80409200-80411600	Weak transcription	NHDF-Ad	bronchial
6	chr13:80409400-80411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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