Variant report

Variant	rs4472520
Chromosome Location	chr8:8849443-8849444
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8848435..8850169-chr8:8864195..8867321,3	K562	blood:
2	chr8:8846981..8849867-chr8:8855018..8857394,2	K562	blood:
3	chr8:8630359..8632288-chr8:8847032..8849956,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10104303	0.84[ASN][1000 genomes]
rs10105455	0.86[ASN][1000 genomes]
rs10113609	0.86[ASN][1000 genomes]
rs1025394	0.88[ASN][1000 genomes]
rs1025395	0.85[ASN][1000 genomes]
rs1036081	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11782281	0.94[CHB][hapmap]
rs11784393	0.80[CHB][hapmap]
rs12681075	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12682403	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13265205	0.82[ASN][1000 genomes]
rs1562211	0.84[CHB][hapmap]
rs17155071	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2044387	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs2044388	0.94[CHB][hapmap]
rs2082210	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2084076	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs2288669	0.89[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2288670	0.83[ASN][1000 genomes]
rs2288671	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2288672	0.84[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2409117	0.83[ASN][1000 genomes]
rs2409118	0.83[ASN][1000 genomes]
rs2409119	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs28397127	0.91[ASN][1000 genomes]
rs28490389	0.86[ASN][1000 genomes]
rs28693452	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2915248	0.84[ASN][1000 genomes]
rs2915251	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2915252	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2915253	0.98[ASN][1000 genomes]
rs2921379	0.89[CHB][hapmap]
rs2953800	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2953801	0.98[ASN][1000 genomes]
rs2953808	0.89[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs2953809	0.89[ASN][1000 genomes]
rs2956242	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2956243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2956244	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2979246	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2979256	1.00[JPT][hapmap]
rs2979260	0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2979261	0.88[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2979262	0.84[ASN][1000 genomes]
rs2979263	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2979264	0.96[ASN][1000 genomes]
rs2979265	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2979266	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs35076339	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4081881	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4433148	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4551361	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4601317	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4636210	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4840383	0.84[ASN][1000 genomes]
rs4841083	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4841084	0.81[ASN][1000 genomes]
rs4841085	0.94[CHB][hapmap]
rs55654856	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57552272	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58254294	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58604216	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60664964	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs62492945	0.86[ASN][1000 genomes]
rs6422353	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs67831654	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs68132987	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs68159296	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6983008	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6983030	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6983503	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6983504	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6987223	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6987558	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6990532	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6992896	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6993244	0.93[ASN][1000 genomes]
rs7001457	0.88[ASN][1000 genomes]
rs7001518	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7005133	0.89[CHB][hapmap]
rs7006089	0.88[ASN][1000 genomes]
rs7006526	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7006798	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7007290	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7012954	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7012984	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73195777	0.86[ASN][1000 genomes]
rs73195780	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73518370	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7357590	0.96[ASN][1000 genomes]
rs7357601	0.99[ASN][1000 genomes]
rs7813388	1.00[CHB][hapmap]
rs7839585	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9644673	0.81[ASN][1000 genomes]
rs9644696	0.81[ASN][1000 genomes]
rs987537	0.89[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs987538	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8846600-8859800	Weak transcription	Brain Anterior Caudate	brain
2	chr8:8847000-8852000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:8848600-8852000	Weak transcription	Fetal Intestine Large	intestine
4	chr8:8848600-8852600	Weak transcription	HepG2	liver
5	chr8:8848800-8852400	Weak transcription	Liver	Liver

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