Variant report

Variant	rs1494828
Chromosome Location	chr5:116637388-116637389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10040337	0.84[EUR][1000 genomes]
rs10042197	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10070521	0.88[EUR][1000 genomes]
rs10073120	0.82[EUR][1000 genomes]
rs10073125	0.83[EUR][1000 genomes]
rs10074665	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10477560	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478336	0.81[EUR][1000 genomes]
rs10478340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478341	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478342	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13170929	0.82[EUR][1000 genomes]
rs13171356	0.85[EUR][1000 genomes]
rs13182834	0.81[EUR][1000 genomes]
rs1494827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845563	0.83[EUR][1000 genomes]
rs1908407	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1979732	0.86[EUR][1000 genomes]
rs2220859	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416466	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34479127	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4580811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595019	0.82[EUR][1000 genomes]
rs66726800	0.86[EUR][1000 genomes]
rs6874362	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6875387	0.83[EUR][1000 genomes]
rs7447805	0.86[EUR][1000 genomes]
rs7703141	0.81[EUR][1000 genomes]
rs7708893	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7711973	0.86[EUR][1000 genomes]
rs7714567	0.81[EUR][1000 genomes]
rs7716765	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7732638	0.82[EUR][1000 genomes]
rs7735582	0.85[EUR][1000 genomes]
rs7737236	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[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	nsv1015741	chr5:116525936-116665270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv599486	chr5:116607979-116669707	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116633400-116638400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:116633600-116638600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:116633600-116638600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:116634200-116638600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:116636000-116638600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:116636400-116638600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:116637000-116637400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:116637000-116637400	Enhancers	Left Ventricle	heart

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