Variant report

Variant	rs8054175
Chromosome Location	chr16:71990424-71990425
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71988031..71990752-chr16:71994880..71997140,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11075908	0.88[EUR][1000 genomes]
rs11075911	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11648353	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648530	0.90[EUR][1000 genomes]
rs11649672	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12102548	0.85[EUR][1000 genomes]
rs12443896	0.86[AFR][1000 genomes]
rs12444829	0.88[EUR][1000 genomes]
rs12447045	0.83[EUR][1000 genomes]
rs12449139	0.86[EUR][1000 genomes]
rs12599192	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12921084	0.81[EUR][1000 genomes]
rs12926041	0.88[EUR][1000 genomes]
rs12926300	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12930744	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12935795	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329779	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1834034	0.81[EUR][1000 genomes]
rs1834035	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1981874	0.83[EUR][1000 genomes]
rs2008675	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2018384	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2288029	0.83[EUR][1000 genomes]
rs2288031	0.84[EUR][1000 genomes]
rs2335709	0.85[EUR][1000 genomes]
rs2335710	0.84[EUR][1000 genomes]
rs2335711	0.81[EUR][1000 genomes]
rs2335712	0.83[EUR][1000 genomes]
rs2335713	0.83[EUR][1000 genomes]
rs2335714	0.84[EUR][1000 genomes]
rs2335715	0.80[EUR][1000 genomes]
rs28697038	0.85[EUR][1000 genomes]
rs2878492	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794692	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4788449	0.88[EUR][1000 genomes]
rs4788564	0.81[EUR][1000 genomes]
rs4788566	0.81[EUR][1000 genomes]
rs4788570	0.84[EUR][1000 genomes]
rs4788571	0.84[EUR][1000 genomes]
rs4788573	0.84[EUR][1000 genomes]
rs4788576	0.87[EUR][1000 genomes]
rs4788581	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4788582	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788584	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788585	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62053803	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499545	0.81[EUR][1000 genomes]
rs6499551	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6499552	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7184437	0.80[EUR][1000 genomes]
rs7193731	0.84[EUR][1000 genomes]
rs7204708	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73574439	0.80[EUR][1000 genomes]
rs8044342	0.81[EUR][1000 genomes]
rs8046859	0.81[EUR][1000 genomes]
rs8050651	0.82[EUR][1000 genomes]
rs8051038	0.81[EUR][1000 genomes]
rs8054111	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8057124	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8058118	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8059053	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8062946	0.88[EUR][1000 genomes]
rs8063324	0.87[EUR][1000 genomes]
rs8063403	0.88[EUR][1000 genomes]
rs9302631	0.88[EUR][1000 genomes]
rs9302632	0.88[EUR][1000 genomes]
rs9806882	0.86[EUR][1000 genomes]
rs9888748	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9889011	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9921412	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934803	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9934812	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9937936	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv572950	chr16:71988728-72020323	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71968800-71995400	Weak transcription	Right Atrium	heart
2	chr16:71969600-71990600	Weak transcription	Adipose Nuclei	Adipose
3	chr16:71969600-71999200	Weak transcription	Liver	Liver
4	chr16:71989600-71995000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:71989800-71991200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr16:71990000-71990800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr16:71990200-71990600	Enhancers	Primary B cells from peripheral blood	blood
8	chr16:71990200-71990600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr16:71990200-71990600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr16:71990200-71991000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr16:71990200-71991200	Enhancers	GM12878-XiMat	blood
12	chr16:71990400-71990800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr16:71990400-71990800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:71990400-71991000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr16:71990400-71991000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr16:71990400-71991000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr16:71990400-71991000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr16:71990400-71991000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr16:71990400-71991000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:71990400-71991000	Enhancers	Dnd41	blood
21	chr16:71990400-71991200	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links