Variant report

Variant	rs17135616
Chromosome Location	chr5:112761680-112761681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112757683..112759457-chr5:112761232..112764035,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10428666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10900685	1.00[CEU][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1116547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11241201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11241206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11241209	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11738075	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]
rs11738215	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]
rs11741916	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11741963	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11743052	0.90[CEU][hapmap]
rs11744606	0.90[CEU][hapmap]
rs11747924	0.85[JPT][hapmap];0.85[YRI][hapmap]
rs11748503	0.90[ASN][1000 genomes]
rs11748794	1.00[JPT][hapmap];0.86[YRI][hapmap]
rs11750945	0.91[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12152879	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514091	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12516418	1.00[CEU][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12518849	0.90[CEU][hapmap]
rs12519323	0.88[JPT][hapmap];0.87[YRI][hapmap]
rs12519753	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12519818	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12520003	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs12523255	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]
rs1443683	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1517209	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1586943	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17135488	0.89[CEU][hapmap]
rs17135597	0.90[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]
rs17135608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17135630	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17135753	1.00[JPT][hapmap]
rs17135754	0.88[JPT][hapmap]
rs1833678	1.00[JPT][hapmap];0.90[YRI][hapmap]
rs1850410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1997521	0.90[CEU][hapmap]
rs2042222	0.88[JPT][hapmap];0.88[YRI][hapmap]
rs2068923	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3846721	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3846722	0.88[JPT][hapmap];0.88[YRI][hapmap]
rs4705551	0.88[JPT][hapmap];0.88[YRI][hapmap]
rs4705558	0.88[JPT][hapmap]
rs4705806	0.90[CEU][hapmap]
rs4705807	0.90[CEU][hapmap]
rs4705808	0.88[CEU][hapmap]
rs4705809	0.90[CEU][hapmap]
rs4705814	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]
rs4705817	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4705818	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4705819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4705826	1.00[JPT][hapmap];0.83[YRI][hapmap]
rs59954246	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62374372	0.88[ASN][1000 genomes]
rs66490974	0.84[AFR][1000 genomes]
rs66502937	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66583752	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66644309	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66728961	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67268709	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67303814	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67764628	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6861786	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6864369	1.00[JPT][hapmap];0.90[YRI][hapmap]
rs6864528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6877524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6878001	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs6879800	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6882900	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6883441	0.88[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6884704	1.00[JPT][hapmap]
rs6887565	0.90[CEU][hapmap]
rs6888602	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs72792179	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73236478	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73236479	1.00[ASN][1000 genomes]
rs73241779	0.85[AFR][1000 genomes]
rs7707443	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7717000	1.00[CEU][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7724707	0.90[CEU][hapmap]
rs7724717	0.90[CEU][hapmap]
rs7724936	0.90[CEU][hapmap]
rs7729433	0.88[JPT][hapmap]
rs957777	1.00[JPT][hapmap];0.88[YRI][hapmap]
rs9800316	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112761000-112763000	Enhancers	HMEC	breast
2	chr5:112761000-112763400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112761400-112762000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112761400-112764400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:112761400-112764800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:112761600-112761800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:112761600-112761800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:112761600-112761800	Enhancers	Lung	lung
9	chr5:112761600-112761800	ZNF genes & repeats	Pancreas	Pancrea
10	chr5:112761600-112762000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:112761600-112762000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:112761600-112762000	Enhancers	Esophagus	oesophagus
13	chr5:112761600-112762600	Flanking Active TSS	NHEK	skin

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