Variant report

Variant	rs11750945
Chromosome Location	chr5:112710755-112710756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10039853	0.81[JPT][hapmap]
rs10074214	0.82[AFR][1000 genomes]
rs10900685	0.91[CEU][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1116547	0.91[CEU][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11241201	0.91[CEU][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11241206	0.91[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11241209	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11738075	0.91[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11738215	0.91[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11741916	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11741963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743052	0.83[CEU][hapmap]
rs11744606	0.83[CEU][hapmap]
rs11747924	0.86[JPT][hapmap]
rs12152879	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12516418	0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518849	0.83[CEU][hapmap]
rs12519323	0.89[JPT][hapmap]
rs12519753	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12519818	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12523255	0.91[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1517209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1586943	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17135488	0.81[CEU][hapmap]
rs17135597	0.82[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17135608	0.91[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17135616	0.91[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17135630	0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1850410	0.81[AMR][1000 genomes]
rs1850412	0.80[AFR][1000 genomes]
rs1997521	0.82[CEU][hapmap]
rs2042222	0.89[JPT][hapmap]
rs2222144	0.81[AFR][1000 genomes]
rs3846721	0.91[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3846722	0.82[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs4122546	0.80[ASN][1000 genomes]
rs4705551	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs4705806	0.83[CEU][hapmap]
rs4705807	0.83[CEU][hapmap]
rs4705809	0.83[CEU][hapmap]
rs4705814	0.91[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4705817	0.81[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705818	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4705819	0.86[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4705826	0.88[JPT][hapmap]
rs59954246	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6594707	0.81[AFR][1000 genomes]
rs66490974	0.85[ASN][1000 genomes]
rs66502937	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66583752	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66644309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66728961	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67103739	0.82[ASN][1000 genomes]
rs67268709	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67303814	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67764628	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6864528	0.91[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6878001	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs6879800	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6883441	0.82[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs6887565	0.82[CEU][hapmap]
rs6888602	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs72792179	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73236478	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73241779	0.85[ASN][1000 genomes]
rs7700413	0.80[AFR][1000 genomes]
rs7717000	0.91[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7717422	0.82[AFR][1000 genomes]
rs7718480	0.82[AFR][1000 genomes]
rs7724707	0.83[CEU][hapmap]
rs7724717	0.83[CEU][hapmap]
rs7724936	0.83[CEU][hapmap]
rs9326884	0.81[AFR][1000 genomes]
rs957777	0.82[CHB][hapmap]
rs9632462	0.81[AFR][1000 genomes]
rs9800316	0.96[AMR][1000 genomes];0.99[EUR][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	chr5:112700800-112718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:112707800-112719000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:112708000-112713800	Weak transcription	HMEC	breast
4	chr5:112708000-112714000	Weak transcription	NHEK	skin
5	chr5:112708000-112716200	Weak transcription	Fetal Kidney	kidney
6	chr5:112708600-112711200	Weak transcription	Fetal Stomach	stomach
7	chr5:112708600-112713400	Weak transcription	HUVEC	blood vessel
8	chr5:112708800-112711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:112710600-112714200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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