Variant report

Variant	rs666088
Chromosome Location	chr4:20495135-20495136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13146390	1.00[JPT][hapmap]
rs478351	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs490478	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504337	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs522501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530152	0.96[ASN][1000 genomes]
rs531297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs543593	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs571367	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs571373	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs596267	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs614026	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs627002	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs631901	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67186031	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6810790	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684278	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878742	chr4:20473799-20527864	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Echocardiographic traits	17903301	GWAS catalog

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20464600-20532600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:20484800-20495200	Weak transcription	NHLF	lung
3	chr4:20489200-20529600	Weak transcription	Fetal Stomach	stomach
4	chr4:20489800-20525400	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:20490000-20495200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:20490000-20496600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:20490400-20495600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:20490800-20495400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:20490800-20529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:20492000-20534800	Weak transcription	Fetal Kidney	kidney
11	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
12	chr4:20493400-20495200	Strong transcription	NHDF-Ad	bronchial
13	chr4:20493400-20499400	Strong transcription	Fetal Lung	lung
14	chr4:20494000-20522600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:20495000-20495600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:20495000-20496000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:20495000-20496000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:20495000-20496000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:20495000-20496000	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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