Variant report

Variant	rs694217
Chromosome Location	chr5:40884350-40884351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40879793..40882550-chr5:40882872..40884630,2	K562	blood:
2	chr5:40839617..40842545-chr5:40884343..40886931,2	K562	blood:

Variant related genes	Relation type
ENSG00000132357	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10064232	1.00[ASN][1000 genomes]
rs1070444	1.00[JPT][hapmap]
rs1070445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1097592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1097604	0.94[ASN][1000 genomes]
rs152374	1.00[JPT][hapmap]
rs1530811	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs154273	0.88[ASN][1000 genomes]
rs154274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs154276	1.00[JPT][hapmap]
rs154278	1.00[JPT][hapmap]
rs154282	1.00[JPT][hapmap]
rs154283	1.00[JPT][hapmap]
rs1631661	0.88[ASN][1000 genomes]
rs166282	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1697929	0.94[ASN][1000 genomes]
rs1697937	0.94[ASN][1000 genomes]
rs1833892	1.00[ASN][1000 genomes]
rs184436	0.94[ASN][1000 genomes]
rs187274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs192962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2262009	0.94[ASN][1000 genomes]
rs249443	0.88[ASN][1000 genomes]
rs249444	0.88[ASN][1000 genomes]
rs29737	1.00[JPT][hapmap]
rs29762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs29763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs29764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs323554	1.00[ASN][1000 genomes]
rs323556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs323560	0.94[ASN][1000 genomes]
rs323562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs39794	0.88[ASN][1000 genomes]
rs408238	1.00[ASN][1000 genomes]
rs418494	0.94[ASN][1000 genomes]
rs42515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs433730	0.94[ASN][1000 genomes]
rs442869	0.88[ASN][1000 genomes]
rs445367	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs455519	1.00[JPT][hapmap]
rs459491	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs459794	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs463675	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs463905	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs464045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs466960	0.88[ASN][1000 genomes]
rs704034	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7717507	1.00[ASN][1000 genomes]
rs837102	1.00[JPT][hapmap]
rs837378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs837381	0.94[ASN][1000 genomes]
rs837382	0.94[ASN][1000 genomes]
rs837384	0.94[ASN][1000 genomes]
rs837385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs837389	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	esv3444044	chr5:40860244-40888483	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40882400-40884800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:40883600-40885200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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