Variant report

Variant	rs386288
Chromosome Location	chr5:118143486-118143487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10447237	1.00[ASN][1000 genomes]
rs10447238	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10447266	1.00[ASN][1000 genomes]
rs11241476	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11959589	1.00[JPT][hapmap]
rs12109252	1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[YRI][hapmap]
rs12187606	1.00[CHB][hapmap]
rs12659444	0.90[CEU][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs13166967	1.00[ASN][1000 genomes]
rs1448479	1.00[JPT][hapmap]
rs1567521	0.96[EUR][1000 genomes]
rs17132673	1.00[ASN][1000 genomes]
rs17144552	1.00[JPT][hapmap]
rs17144708	0.92[EUR][1000 genomes]
rs17144714	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17144715	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs17144716	0.90[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap];0.95[EUR][1000 genomes]
rs17144806	1.00[CHB][hapmap]
rs17381247	1.00[JPT][hapmap]
rs17440213	1.00[JPT][hapmap]
rs1864109	1.00[ASN][1000 genomes]
rs2029036	1.00[JPT][hapmap]
rs2081957	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2084460	1.00[JPT][hapmap]
rs2099092	1.00[ASN][1000 genomes]
rs2115301	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs2115302	1.00[ASN][1000 genomes]
rs2162888	1.00[ASN][1000 genomes]
rs370827	0.97[EUR][1000 genomes]
rs3813297	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs3813298	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs383585	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400967	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs406335	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs447317	0.97[EUR][1000 genomes]
rs4895183	1.00[CHB][hapmap]
rs4895184	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4895347	0.92[EUR][1000 genomes]
rs4895353	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4895354	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs55821851	1.00[ASN][1000 genomes]
rs55876313	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56004980	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs581887	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635083	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6861907	0.97[EUR][1000 genomes]
rs6862297	1.00[JPT][hapmap]
rs6871241	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap];0.95[EUR][1000 genomes]
rs6874109	1.00[CHB][hapmap]
rs6881583	1.00[ASN][1000 genomes]
rs6881776	0.95[EUR][1000 genomes]
rs6886240	0.97[EUR][1000 genomes]
rs73234489	0.96[EUR][1000 genomes]
rs73234502	1.00[ASN][1000 genomes]
rs73236920	1.00[ASN][1000 genomes]
rs7710339	1.00[JPT][hapmap]
rs7722027	0.94[EUR][1000 genomes]
rs7724403	1.00[JPT][hapmap]
rs7724753	1.00[JPT][hapmap]
rs7726905	0.85[EUR][1000 genomes]
rs822743	0.87[AMR][1000 genomes]
rs849728	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	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
3	nsv882769	chr5:118088385-118154368	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:118138000-118146000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:118142800-118145600	Weak transcription	Aorta	Aorta
4	chr5:118143400-118178200	Weak transcription	Left Ventricle	heart

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