Variant report

Variant	rs2069060
Chromosome Location	chr6:134069329-134069330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134069099..134072147-chr6:134072999..134075522,3	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1000025	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10485153	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10485154	0.97[ASN][1000 genomes]
rs12203961	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12210532	0.82[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12216307	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12660662	0.81[ASN][1000 genomes]
rs12660720	0.81[ASN][1000 genomes]
rs12660957	0.91[ASN][1000 genomes]
rs12661599	0.90[ASN][1000 genomes]
rs12717184	0.89[ASN][1000 genomes]
rs13194152	0.90[ASN][1000 genomes]
rs13194345	0.91[ASN][1000 genomes]
rs13196860	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13200337	0.92[ASN][1000 genomes]
rs13203797	0.92[ASN][1000 genomes]
rs13204047	0.92[ASN][1000 genomes]
rs13205217	0.86[ASN][1000 genomes]
rs13219946	0.90[ASN][1000 genomes]
rs1468053	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1468054	0.89[EUR][1000 genomes]
rs17062752	0.89[ASN][1000 genomes]
rs17398008	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17398029	0.86[ASN][1000 genomes]
rs17398113	0.89[ASN][1000 genomes]
rs17398664	0.89[ASN][1000 genomes]
rs17399159	0.91[ASN][1000 genomes]
rs17476396	0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1999756	0.84[ASN][1000 genomes]
rs2207405	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2327380	0.81[EUR][1000 genomes]
rs2327381	0.88[ASN][1000 genomes]
rs35317124	0.90[ASN][1000 genomes]
rs35439350	0.90[ASN][1000 genomes]
rs35470523	0.89[ASN][1000 genomes]
rs36092198	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55952233	0.85[ASN][1000 genomes]
rs62427563	0.91[ASN][1000 genomes]
rs62429310	0.88[ASN][1000 genomes]
rs6569896	0.89[ASN][1000 genomes]
rs6569897	0.90[EUR][1000 genomes]
rs6569898	0.91[EUR][1000 genomes]
rs68054668	0.91[ASN][1000 genomes]
rs6904690	0.88[ASN][1000 genomes]
rs6906782	0.90[ASN][1000 genomes]
rs6917316	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6918525	0.90[ASN][1000 genomes]
rs6918884	0.90[ASN][1000 genomes]
rs6921832	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6925029	0.91[EUR][1000 genomes]
rs6926195	0.91[ASN][1000 genomes]
rs6939216	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6941465	0.90[ASN][1000 genomes]
rs736572	0.91[EUR][1000 genomes]
rs766996	0.87[ASN][1000 genomes]
rs7739052	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7739104	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7739428	0.91[ASN][1000 genomes]
rs7739826	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7767765	0.91[EUR][1000 genomes]
rs9321411	0.85[EUR][1000 genomes]
rs9321412	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9493690	0.85[EUR][1000 genomes]
rs9493692	0.86[EUR][1000 genomes]
rs9493695	0.91[EUR][1000 genomes]
rs9493698	0.91[EUR][1000 genomes]
rs9493710	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9493712	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9493716	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9493719	0.93[EUR][1000 genomes];0.84[ASN][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	nsv830812	chr6:133993897-134165407	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2069060	TBPL1	cis	parietal	SCAN
rs2069060	ALDH8A1	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134063000-134069800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:134063000-134070800	Weak transcription	Right Atrium	heart
3	chr6:134063000-134073000	Weak transcription	Fetal Kidney	kidney
4	chr6:134065800-134070000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:134067200-134072800	Weak transcription	Osteobl	bone
6	chr6:134067600-134075000	Weak transcription	Stomach Mucosa	stomach
7	chr6:134068000-134073000	Weak transcription	A549	lung
8	chr6:134068600-134071000	Enhancers	Fetal Stomach	stomach
9	chr6:134068600-134082200	Weak transcription	Aorta	Aorta
10	chr6:134068800-134069800	Enhancers	Fetal Lung	lung
11	chr6:134068800-134070400	Enhancers	NHLF	lung

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