Variant report

Variant	rs8139994
Chromosome Location	chr22:30273394-30273395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30265481..30267590-chr22:30272869..30274738,2	MCF-7	breast:
2	chr22:30267624..30270362-chr22:30273098..30276358,3	K562	blood:
3	chr22:30266018..30267537-chr22:30271072..30273991,2	K562	blood:
4	chr22:30269255..30271141-chr22:30271794..30273974,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1071888	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1076137	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12168552	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12171061	0.80[EUR][1000 genomes]
rs131294	0.82[AMR][1000 genomes]
rs131296	0.82[AMR][1000 genomes]
rs140151	0.86[AMR][1000 genomes]
rs17643918	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807509	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs193473	0.81[EUR][1000 genomes]
rs193481	0.82[EUR][1000 genomes]
rs2017677	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2051764	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2105870	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2349225	0.83[AMR][1000 genomes]
rs2412960	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2412963	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs249400	0.85[ASN][1000 genomes]
rs28257	0.82[EUR][1000 genomes]
rs34862234	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35705048	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36578	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36580	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36590	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36591	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36594	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36596	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36598	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36600	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36601	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36604	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36605	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36606	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36607	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3788423	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3887275	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3958025	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs39712	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41162	0.84[EUR][1000 genomes]
rs41175	0.82[EUR][1000 genomes]
rs41179	0.81[EUR][1000 genomes]
rs4239932	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820820	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4820822	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4823055	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4823063	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4993442	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5752968	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5752986	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5752988	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5752993	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763630	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763634	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5763644	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5763674	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5763675	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763680	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763689	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs715523	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7286070	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292615	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737904	0.91[EUR][1000 genomes]
rs737909	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737912	0.85[EUR][1000 genomes]
rs8136147	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8141680	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9620926	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625873	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9625874	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9625878	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9625879	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	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	chr22:30268600-30273800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:30268800-30277800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:30268800-30279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:30269000-30278800	Weak transcription	Adipose Nuclei	Adipose
5	chr22:30270200-30273800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:30270200-30279200	Weak transcription	Spleen	Spleen

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