Variant report

Variant	rs12513840
Chromosome Location	chr5:127059942-127059943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10463500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10463830	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10463831	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10463833	1.00[EUR][1000 genomes]
rs10519957	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11241937	0.81[ASN][1000 genomes]
rs12109863	0.81[ASN][1000 genomes]
rs12110005	0.87[ASN][1000 genomes]
rs12513657	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12514061	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12514063	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12515664	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12515942	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12518298	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12519916	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12520199	0.81[ASN][1000 genomes]
rs12522308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12523504	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1515641	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17696654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17696713	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17696737	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17696932	1.00[EUR][1000 genomes]
rs17764290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17764334	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17764418	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1897524	1.00[EUR][1000 genomes]
rs1966643	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280170	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs35164039	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35890477	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4835929	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4836329	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4836331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860127	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6874681	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6874932	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6877039	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73341170	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73341185	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73343005	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73343059	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73345063	1.00[EUR][1000 genomes]
rs7706845	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7707416	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7711139	1.00[ASW][hapmap];0.83[LWK][hapmap];0.82[YRI][hapmap]
rs7714051	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7722425	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs9686108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9688160	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1798341	chr5:127038316-127061310	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	23527680	GWAS catalog

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127057400-127060200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:127058600-127060200	Enhancers	Primary hematopoietic stem cells	blood
3	chr5:127058600-127061600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:127059000-127060000	Enhancers	HUVEC	blood vessel
5	chr5:127059000-127060400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:127059200-127060000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:127059200-127060200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:127059200-127060400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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