Variant report

Variant	rs2430040
Chromosome Location	chr7:122299915-122299916
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	chr7:122293297..122295809-chr7:122299127..122301217,2	MCF-7	breast:
2	chr7:122296179..122297714-chr7:122297804..122300438,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1120018	0.95[ASN][1000 genomes]
rs1544592	0.88[ASN][1000 genomes]
rs1544593	0.94[ASN][1000 genomes]
rs1544594	0.95[ASN][1000 genomes]
rs1544595	0.96[ASN][1000 genomes]
rs2109967	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2109968	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2159827	0.94[ASN][1000 genomes]
rs2192024	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2251761	0.96[ASN][1000 genomes]
rs2254981	0.82[EUR][1000 genomes]
rs2430016	0.83[EUR][1000 genomes]
rs2430018	0.83[EUR][1000 genomes]
rs2430020	0.82[EUR][1000 genomes]
rs2430021	0.82[EUR][1000 genomes]
rs2430022	0.82[EUR][1000 genomes]
rs2430030	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2430031	0.85[EUR][1000 genomes]
rs2430032	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2430033	0.94[ASN][1000 genomes]
rs2430034	0.96[ASN][1000 genomes]
rs2430035	0.96[ASN][1000 genomes]
rs2430036	0.94[ASN][1000 genomes]
rs2430042	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2430044	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2430050	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2430053	0.83[EUR][1000 genomes]
rs2471185	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2471187	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2471189	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2471190	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2471191	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2471193	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2471195	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2471196	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2471197	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2471198	0.81[EUR][1000 genomes]
rs2471199	0.83[EUR][1000 genomes]
rs2471203	0.83[EUR][1000 genomes]
rs2471204	0.83[EUR][1000 genomes]
rs2471207	0.82[EUR][1000 genomes]
rs2471211	0.82[EUR][1000 genomes]
rs4285412	0.83[EUR][1000 genomes]
rs4727944	0.80[ASN][1000 genomes]
rs7789220	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7789692	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs986997	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs987000	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122293600-122318600	Weak transcription	Lung	lung
2	chr7:122294000-122314400	Weak transcription	Fetal Lung	lung

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