Variant report

Variant	rs1494371
Chromosome Location	chr1:221014598-221014599
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220983246..220984120-chr1:221014308..221015139,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495152	0.85[EUR][1000 genomes]
rs10863567	0.85[EUR][1000 genomes]
rs10863568	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11118609	0.85[EUR][1000 genomes]
rs11118611	0.85[EUR][1000 genomes]
rs11118615	0.81[EUR][1000 genomes]
rs11118616	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11118619	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12057411	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12073837	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12089958	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12117818	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12123589	0.92[AFR][1000 genomes]
rs12129004	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12139139	0.81[EUR][1000 genomes]
rs12145674	0.81[EUR][1000 genomes]
rs1335919	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1494368	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1494372	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17008835	0.88[ASN][1000 genomes]
rs17596850	0.81[EUR][1000 genomes]
rs17650107	0.80[EUR][1000 genomes]
rs2279638	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2378425	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35730037	0.85[EUR][1000 genomes]
rs4143773	0.81[EUR][1000 genomes]
rs61830289	0.85[EUR][1000 genomes]
rs6541161	0.85[EUR][1000 genomes]
rs6668666	0.80[EUR][1000 genomes]
rs6673877	0.85[EUR][1000 genomes]
rs7530074	0.85[EUR][1000 genomes]
rs7530176	0.85[EUR][1000 genomes]
rs7544735	0.81[EUR][1000 genomes]
rs7553447	0.85[EUR][1000 genomes]
rs881995	0.81[EUR][1000 genomes]
rs903319	0.92[EUR][1000 genomes]
rs984676	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221002800-221016200	Weak transcription	Fetal Lung	lung
2	chr1:221008000-221015800	Weak transcription	Adipose Nuclei	Adipose
3	chr1:221008200-221015600	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:221013400-221017200	Weak transcription	Right Atrium	heart
5	chr1:221013400-221018000	Weak transcription	Right Ventricle	heart
6	chr1:221013600-221015600	Weak transcription	Fetal Heart	heart
7	chr1:221014000-221014800	Enhancers	Left Ventricle	heart
8	chr1:221014200-221014600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:221014400-221014600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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