Variant report

Variant	rs821747
Chromosome Location	chr5:111657592-111657593
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1004383	0.84[ASN][1000 genomes]
rs1004385	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10052915	0.87[CEU][hapmap];0.87[CHB][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1019743	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs1019744	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs10214321	0.87[CEU][hapmap]
rs11743178	0.80[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.89[ASN][1000 genomes]
rs12519600	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs1464764	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs1474360	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs1524426	0.80[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs17134325	0.84[ASN][1000 genomes]
rs1975017	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2042884	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2140625	0.87[CEU][hapmap];0.87[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2416283	0.87[CEU][hapmap];0.87[CHB][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2416284	0.87[CEU][hapmap];0.87[CHB][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2839826	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs367807	0.82[CEU][hapmap];0.83[CHB][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs368032	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs373303	0.80[ASN][1000 genomes]
rs373583	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs376395	0.82[ASN][1000 genomes]
rs387117	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs406444	0.82[ASN][1000 genomes]
rs424998	0.82[ASN][1000 genomes]
rs440759	0.87[CEU][hapmap];0.81[CHB][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs441563	0.80[ASN][1000 genomes]
rs443024	0.83[ASN][1000 genomes]
rs447144	0.82[ASN][1000 genomes]
rs454794	0.82[ASN][1000 genomes]
rs4958040	0.84[ASN][1000 genomes]
rs6594591	0.87[CEU][hapmap];0.81[CHB][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6861186	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6877695	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7706772	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs7711318	0.84[ASN][1000 genomes]
rs7720180	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7720546	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs821733	1.00[CEU][hapmap];0.87[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs821734	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs821735	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs821745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs987764	0.84[ASN][1000 genomes]
rs987765	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111650600-111659600	Enhancers	Fetal Heart	heart
3	chr5:111652800-111665200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:111652800-111666800	Weak transcription	Right Ventricle	heart
5	chr5:111652800-111667000	Weak transcription	Esophagus	oesophagus
6	chr5:111653200-111674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:111656800-111658200	Weak transcription	Right Atrium	heart
8	chr5:111657000-111658200	Weak transcription	Left Ventricle	heart
9	chr5:111657000-111665200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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