Variant report

Variant	rs12523255
Chromosome Location	chr5:112722085-112722086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10042223	1.00[YRI][hapmap]
rs10051834	0.95[YRI][hapmap]
rs10062004	0.95[YRI][hapmap]
rs10074214	1.00[YRI][hapmap]
rs10077020	0.86[ASN][1000 genomes]
rs10428666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10900685	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1116547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241197	0.82[JPT][hapmap]
rs11241201	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241209	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11738075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741794	0.82[JPT][hapmap]
rs11741916	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11741963	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11743052	0.92[CEU][hapmap]
rs11744606	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs11746821	0.81[EUR][1000 genomes]
rs11747924	0.82[JPT][hapmap]
rs11748465	0.82[JPT][hapmap]
rs11748503	0.96[ASN][1000 genomes]
rs11748524	0.82[JPT][hapmap]
rs11748794	1.00[JPT][hapmap]
rs11749864	0.82[JPT][hapmap]
rs11750945	0.91[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12152879	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12514091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[ASN][1000 genomes]
rs12516418	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12518849	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs12519323	0.85[JPT][hapmap]
rs12519753	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519818	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12520003	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs12523027	0.82[JPT][hapmap]
rs13188946	1.00[YRI][hapmap]
rs13360719	0.86[ASN][1000 genomes]
rs1366393	1.00[YRI][hapmap]
rs1443683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1517209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586943	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135488	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs17135526	0.82[JPT][hapmap]
rs17135535	0.82[JPT][hapmap]
rs17135543	0.82[JPT][hapmap]
rs17135546	0.82[JPT][hapmap]
rs17135597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17135616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17135630	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1833678	1.00[JPT][hapmap]
rs1838208	0.86[ASN][1000 genomes]
rs1850407	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1850410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1850412	1.00[YRI][hapmap]
rs1965429	0.81[YRI][hapmap]
rs1997521	0.92[CEU][hapmap]
rs2042222	0.85[JPT][hapmap]
rs2068923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[ASN][1000 genomes]
rs2222144	1.00[YRI][hapmap]
rs26959	0.95[YRI][hapmap]
rs26961	0.86[YRI][hapmap]
rs26966	0.90[YRI][hapmap]
rs27567	0.95[YRI][hapmap]
rs3846721	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3846722	0.85[JPT][hapmap]
rs4705551	0.85[JPT][hapmap]
rs4705558	0.85[JPT][hapmap]
rs4705806	0.92[CEU][hapmap]
rs4705807	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4705808	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4705809	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4705814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705818	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705819	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705826	1.00[JPT][hapmap]
rs59954246	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62374372	0.94[ASN][1000 genomes]
rs6594701	0.81[YRI][hapmap]
rs6594703	0.84[YRI][hapmap]
rs6594704	0.96[YRI][hapmap]
rs6594705	0.96[YRI][hapmap]
rs6594707	1.00[YRI][hapmap]
rs6594710	1.00[YRI][hapmap]
rs6594712	1.00[YRI][hapmap]
rs66502937	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66583752	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66644309	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66728961	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67268709	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67303814	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67764628	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6861786	0.86[ASN][1000 genomes]
rs6864369	1.00[JPT][hapmap]
rs6864528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6867397	1.00[YRI][hapmap]
rs6877524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]
rs6878001	0.85[JPT][hapmap]
rs6879800	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6882900	0.86[ASN][1000 genomes]
rs6883441	0.85[JPT][hapmap]
rs6884704	1.00[JPT][hapmap]
rs6887565	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs6888602	0.92[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs6894687	0.95[YRI][hapmap]
rs72792179	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73236478	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73236479	0.94[ASN][1000 genomes]
rs7707443	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs7708084	0.95[YRI][hapmap]
rs7717000	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7717422	1.00[YRI][hapmap]
rs7724707	0.92[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs7724717	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7724936	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7725589	0.95[YRI][hapmap]
rs7729433	0.85[JPT][hapmap]
rs9326886	0.95[YRI][hapmap]
rs9326887	0.94[YRI][hapmap]
rs9326888	0.96[YRI][hapmap]
rs957777	1.00[JPT][hapmap]
rs9632462	1.00[YRI][hapmap]
rs971370	0.82[JPT][hapmap]
rs971371	0.82[JPT][hapmap]
rs971373	0.82[JPT][hapmap]
rs977997	0.82[JPT][hapmap]
rs9800316	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr5:112717000-112729400	Weak transcription	Fetal Stomach	stomach
2	chr5:112718800-112731400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:112719200-112722200	Weak transcription	NHEK	skin
4	chr5:112719400-112724000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:112720800-112724400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:112720800-112731600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:112721000-112726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:112721600-112724400	Weak transcription	HMEC	breast
9	chr5:112722000-112722200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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