Variant report

Variant	rs1515641
Chromosome Location	chr5:127139616-127139617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10463500	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs10463830	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs10463831	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10463833	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10519957	0.81[AMR][1000 genomes]
rs12513840	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12514063	0.81[AMR][1000 genomes]
rs12515664	0.81[AMR][1000 genomes]
rs12515942	0.81[AMR][1000 genomes]
rs12520720	1.00[ASN][1000 genomes]
rs12522308	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12523504	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17696654	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs17696713	0.81[AMR][1000 genomes]
rs17696737	0.81[AMR][1000 genomes]
rs17696932	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17764290	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs17764334	0.81[AMR][1000 genomes]
rs17764418	0.81[AMR][1000 genomes]
rs1897524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966643	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280170	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap]
rs35890477	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4835929	0.81[AMR][1000 genomes]
rs4836331	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4836333	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57808867	0.94[ASN][1000 genomes]
rs6874932	0.81[AMR][1000 genomes]
rs6877039	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs73345063	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7706845	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7707416	0.86[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs7711139	0.86[ASW][hapmap]
rs7714051	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722425	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7729470	0.94[ASN][1000 genomes]
rs9686108	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9688160	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

Variant related diseases (count:1)

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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127135200-127143800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:127138200-127140000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:127138200-127140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:127138200-127140400	Weak transcription	NHEK	skin
5	chr5:127138200-127140600	Weak transcription	HSMM	muscle
6	chr5:127138200-127140600	Weak transcription	HSMMtube	muscle
7	chr5:127138400-127139800	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:127138400-127140000	Weak transcription	NH-A	brain
9	chr5:127138400-127140400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:127138400-127141400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:127138400-127141800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:127138600-127140600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:127138600-127140600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:127138600-127140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:127138600-127146400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:127138800-127140600	Weak transcription	NHDF-Ad	bronchial
17	chr5:127138800-127140600	Weak transcription	NHLF	lung
18	chr5:127139000-127145600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:127139200-127151800	Weak transcription	Stomach Mucosa	stomach
20	chr5:127139600-127139800	Enhancers	Stomach Smooth Muscle	stomach

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