Variant report

Variant	rs17309689
Chromosome Location	chr5:118365527-118365528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10519564	1.00[JPT][hapmap]
rs12109156	1.00[JPT][hapmap]
rs12187606	1.00[JPT][hapmap]
rs17132677	1.00[JPT][hapmap]
rs17144715	1.00[JPT][hapmap]
rs17144716	1.00[JPT][hapmap]
rs17144806	1.00[JPT][hapmap]
rs17144824	1.00[JPT][hapmap]
rs17144836	1.00[JPT][hapmap]
rs17144893	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs2217310	1.00[JPT][hapmap]
rs2377127	1.00[JPT][hapmap]
rs4634381	1.00[JPT][hapmap]
rs4895183	1.00[JPT][hapmap]
rs55811049	0.92[ASN][1000 genomes]
rs55968902	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56165240	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6595170	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6860946	1.00[JPT][hapmap]
rs6871241	1.00[JPT][hapmap]
rs6874109	1.00[JPT][hapmap]
rs6874399	1.00[JPT][hapmap]
rs6880144	1.00[JPT][hapmap]
rs6892437	1.00[JPT][hapmap]
rs73240722	0.89[ASN][1000 genomes]
rs7706037	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7719250	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721907	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7734815	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118355200-118367600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:118363400-118366600	Enhancers	Primary B cells from cord blood	blood
3	chr5:118363800-118366000	Enhancers	GM12878-XiMat	blood
4	chr5:118363800-118366800	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:118364000-118366600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:118364200-118366600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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